nsv827942
- Organism: Homo sapiens
- Study:nstd67 (Park et al. 2010)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:17
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,101
- Publication(s):Park et al. 2010
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1812 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 1241 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 1812 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 1152 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv827942 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 1,521,889 | 1,538,989 |
| nsv827942 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 204,260 | 221,360 |
| nsv827942 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 1,525,661 | 1,542,761 |
| nsv827942 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 1,504,668 | 1,521,768 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1421512 | copy number loss | NA18997 | Oligo aCGH | Probe signal intensity | 743 |
| nssv1422426 | copy number loss | NA18552 | Oligo aCGH | Probe signal intensity | 610 |
| nssv1423184 | copy number loss | NA18999 | Oligo aCGH | Probe signal intensity | 674 |
| nssv1424582 | copy number loss | NA18947 | Oligo aCGH | Probe signal intensity | 653 |
| nssv1426450 | copy number loss | AK6 | Oligo aCGH | Probe signal intensity | 714 |
| nssv1428081 | copy number loss | AK10 | Oligo aCGH | Probe signal intensity | 649 |
| nssv1428880 | copy number loss | AK12 | Oligo aCGH | Probe signal intensity | 596 |
| nssv1429620 | copy number loss | AK14 | Oligo aCGH | Probe signal intensity | 630 |
| nssv1431135 | copy number loss | AK18 | Oligo aCGH | Probe signal intensity | 628 |
| nssv1432649 | copy number loss | NA18972 | Oligo aCGH | Probe signal intensity | 750 |
| nssv1433482 | copy number loss | NA18526 | Oligo aCGH | Probe signal intensity | 677 |
| nssv1434915 | copy number loss | NA18942 | Oligo aCGH | Probe signal intensity | 712 |
| nssv1435705 | copy number loss | NA18566 | Oligo aCGH | Probe signal intensity | 605 |
| nssv1436185 | copy number loss | NA18592 | Oligo aCGH | Probe signal intensity | 636 |
| nssv1436402 | copy number loss | NA18542 | Oligo aCGH | Probe signal intensity | 805 |
| nssv1437281 | copy number loss | NA18949 | Oligo aCGH | Probe signal intensity | 640 |
| nssv1440183 | copy number loss | NA18564 | Oligo aCGH | Probe signal intensity | 612 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421512 | Remapped | Perfect | NT_187529.1:g.(?_2 04260)_(221360_?)d el | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 204,260 | 221,360 |
| nssv1422426 | Remapped | Perfect | NT_187529.1:g.(?_2 04260)_(221360_?)d el | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 204,260 | 221,360 |
| nssv1423184 | Remapped | Perfect | NT_187529.1:g.(?_2 04260)_(221360_?)d el | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 204,260 | 221,360 |
| nssv1424582 | Remapped | Perfect | NT_187529.1:g.(?_2 04260)_(221360_?)d el | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 204,260 | 221,360 |
| nssv1426450 | Remapped | Perfect | NT_187529.1:g.(?_2 04260)_(221360_?)d el | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 204,260 | 221,360 |
| nssv1428081 | Remapped | Perfect | NT_187529.1:g.(?_2 04260)_(221360_?)d el | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 204,260 | 221,360 |
| nssv1428880 | Remapped | Perfect | NT_187529.1:g.(?_2 04260)_(221360_?)d el | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 204,260 | 221,360 |
| nssv1429620 | Remapped | Perfect | NT_187529.1:g.(?_2 04260)_(221360_?)d el | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 204,260 | 221,360 |
| nssv1431135 | Remapped | Perfect | NT_187529.1:g.(?_2 04260)_(221360_?)d el | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 204,260 | 221,360 |
| nssv1432649 | Remapped | Perfect | NT_187529.1:g.(?_2 04260)_(221360_?)d el | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 204,260 | 221,360 |
| nssv1433482 | Remapped | Perfect | NT_187529.1:g.(?_2 04260)_(221360_?)d el | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 204,260 | 221,360 |
| nssv1434915 | Remapped | Perfect | NT_187529.1:g.(?_2 04260)_(221360_?)d el | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 204,260 | 221,360 |
| nssv1435705 | Remapped | Perfect | NT_187529.1:g.(?_2 04260)_(221360_?)d el | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 204,260 | 221,360 |
| nssv1436185 | Remapped | Perfect | NT_187529.1:g.(?_2 04260)_(221360_?)d el | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 204,260 | 221,360 |
| nssv1436402 | Remapped | Perfect | NT_187529.1:g.(?_2 04260)_(221360_?)d el | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 204,260 | 221,360 |
| nssv1437281 | Remapped | Perfect | NT_187529.1:g.(?_2 04260)_(221360_?)d el | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 204,260 | 221,360 |
| nssv1440183 | Remapped | Perfect | NT_187529.1:g.(?_2 04260)_(221360_?)d el | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 204,260 | 221,360 |
| nssv1421512 | Remapped | Perfect | NC_000002.12:g.(?_ 1521889)_(1538989_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,521,889 | 1,538,989 |
| nssv1422426 | Remapped | Perfect | NC_000002.12:g.(?_ 1521889)_(1538989_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,521,889 | 1,538,989 |
| nssv1423184 | Remapped | Perfect | NC_000002.12:g.(?_ 1521889)_(1538989_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,521,889 | 1,538,989 |
| nssv1424582 | Remapped | Perfect | NC_000002.12:g.(?_ 1521889)_(1538989_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,521,889 | 1,538,989 |
| nssv1426450 | Remapped | Perfect | NC_000002.12:g.(?_ 1521889)_(1538989_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,521,889 | 1,538,989 |
| nssv1428081 | Remapped | Perfect | NC_000002.12:g.(?_ 1521889)_(1538989_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,521,889 | 1,538,989 |
| nssv1428880 | Remapped | Perfect | NC_000002.12:g.(?_ 1521889)_(1538989_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,521,889 | 1,538,989 |
| nssv1429620 | Remapped | Perfect | NC_000002.12:g.(?_ 1521889)_(1538989_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,521,889 | 1,538,989 |
| nssv1431135 | Remapped | Perfect | NC_000002.12:g.(?_ 1521889)_(1538989_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,521,889 | 1,538,989 |
| nssv1432649 | Remapped | Perfect | NC_000002.12:g.(?_ 1521889)_(1538989_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,521,889 | 1,538,989 |
| nssv1433482 | Remapped | Perfect | NC_000002.12:g.(?_ 1521889)_(1538989_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,521,889 | 1,538,989 |
| nssv1434915 | Remapped | Perfect | NC_000002.12:g.(?_ 1521889)_(1538989_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,521,889 | 1,538,989 |
| nssv1435705 | Remapped | Perfect | NC_000002.12:g.(?_ 1521889)_(1538989_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,521,889 | 1,538,989 |
| nssv1436185 | Remapped | Perfect | NC_000002.12:g.(?_ 1521889)_(1538989_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,521,889 | 1,538,989 |
| nssv1436402 | Remapped | Perfect | NC_000002.12:g.(?_ 1521889)_(1538989_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,521,889 | 1,538,989 |
| nssv1437281 | Remapped | Perfect | NC_000002.12:g.(?_ 1521889)_(1538989_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,521,889 | 1,538,989 |
| nssv1440183 | Remapped | Perfect | NC_000002.12:g.(?_ 1521889)_(1538989_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,521,889 | 1,538,989 |
| nssv1421512 | Remapped | Perfect | NC_000002.11:g.(?_ 1525661)_(1542761_ ?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 1,525,661 | 1,542,761 |
| nssv1422426 | Remapped | Perfect | NC_000002.11:g.(?_ 1525661)_(1542761_ ?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 1,525,661 | 1,542,761 |
| nssv1423184 | Remapped | Perfect | NC_000002.11:g.(?_ 1525661)_(1542761_ ?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 1,525,661 | 1,542,761 |
| nssv1424582 | Remapped | Perfect | NC_000002.11:g.(?_ 1525661)_(1542761_ ?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 1,525,661 | 1,542,761 |
| nssv1426450 | Remapped | Perfect | NC_000002.11:g.(?_ 1525661)_(1542761_ ?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 1,525,661 | 1,542,761 |
| nssv1428081 | Remapped | Perfect | NC_000002.11:g.(?_ 1525661)_(1542761_ ?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 1,525,661 | 1,542,761 |
| nssv1428880 | Remapped | Perfect | NC_000002.11:g.(?_ 1525661)_(1542761_ ?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 1,525,661 | 1,542,761 |
| nssv1429620 | Remapped | Perfect | NC_000002.11:g.(?_ 1525661)_(1542761_ ?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 1,525,661 | 1,542,761 |
| nssv1431135 | Remapped | Perfect | NC_000002.11:g.(?_ 1525661)_(1542761_ ?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 1,525,661 | 1,542,761 |
| nssv1432649 | Remapped | Perfect | NC_000002.11:g.(?_ 1525661)_(1542761_ ?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 1,525,661 | 1,542,761 |
| nssv1433482 | Remapped | Perfect | NC_000002.11:g.(?_ 1525661)_(1542761_ ?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 1,525,661 | 1,542,761 |
| nssv1434915 | Remapped | Perfect | NC_000002.11:g.(?_ 1525661)_(1542761_ ?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 1,525,661 | 1,542,761 |
| nssv1435705 | Remapped | Perfect | NC_000002.11:g.(?_ 1525661)_(1542761_ ?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 1,525,661 | 1,542,761 |
| nssv1436185 | Remapped | Perfect | NC_000002.11:g.(?_ 1525661)_(1542761_ ?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 1,525,661 | 1,542,761 |
| nssv1436402 | Remapped | Perfect | NC_000002.11:g.(?_ 1525661)_(1542761_ ?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 1,525,661 | 1,542,761 |
| nssv1437281 | Remapped | Perfect | NC_000002.11:g.(?_ 1525661)_(1542761_ ?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 1,525,661 | 1,542,761 |
| nssv1440183 | Remapped | Perfect | NC_000002.11:g.(?_ 1525661)_(1542761_ ?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 1,525,661 | 1,542,761 |
| nssv1421512 | Submitted genomic | NC_000002.10:g.(?_ 1504668)_(1521768_ ?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 1,504,668 | 1,521,768 | ||
| nssv1422426 | Submitted genomic | NC_000002.10:g.(?_ 1504668)_(1521768_ ?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 1,504,668 | 1,521,768 | ||
| nssv1423184 | Submitted genomic | NC_000002.10:g.(?_ 1504668)_(1521768_ ?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 1,504,668 | 1,521,768 | ||
| nssv1424582 | Submitted genomic | NC_000002.10:g.(?_ 1504668)_(1521768_ ?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 1,504,668 | 1,521,768 | ||
| nssv1426450 | Submitted genomic | NC_000002.10:g.(?_ 1504668)_(1521768_ ?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 1,504,668 | 1,521,768 | ||
| nssv1428081 | Submitted genomic | NC_000002.10:g.(?_ 1504668)_(1521768_ ?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 1,504,668 | 1,521,768 | ||
| nssv1428880 | Submitted genomic | NC_000002.10:g.(?_ 1504668)_(1521768_ ?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 1,504,668 | 1,521,768 | ||
| nssv1429620 | Submitted genomic | NC_000002.10:g.(?_ 1504668)_(1521768_ ?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 1,504,668 | 1,521,768 | ||
| nssv1431135 | Submitted genomic | NC_000002.10:g.(?_ 1504668)_(1521768_ ?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 1,504,668 | 1,521,768 | ||
| nssv1432649 | Submitted genomic | NC_000002.10:g.(?_ 1504668)_(1521768_ ?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 1,504,668 | 1,521,768 | ||
| nssv1433482 | Submitted genomic | NC_000002.10:g.(?_ 1504668)_(1521768_ ?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 1,504,668 | 1,521,768 | ||
| nssv1434915 | Submitted genomic | NC_000002.10:g.(?_ 1504668)_(1521768_ ?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 1,504,668 | 1,521,768 | ||
| nssv1435705 | Submitted genomic | NC_000002.10:g.(?_ 1504668)_(1521768_ ?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 1,504,668 | 1,521,768 | ||
| nssv1436185 | Submitted genomic | NC_000002.10:g.(?_ 1504668)_(1521768_ ?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 1,504,668 | 1,521,768 | ||
| nssv1436402 | Submitted genomic | NC_000002.10:g.(?_ 1504668)_(1521768_ ?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 1,504,668 | 1,521,768 | ||
| nssv1437281 | Submitted genomic | NC_000002.10:g.(?_ 1504668)_(1521768_ ?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 1,504,668 | 1,521,768 | ||
| nssv1440183 | Submitted genomic | NC_000002.10:g.(?_ 1504668)_(1521768_ ?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 1,504,668 | 1,521,768 |