nsv1345978
- Organism: Homo sapiens
- Study:nstd122 (Duyzend et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:130,166
- Publication(s):Duyzend et al. 2015
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: 1403 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1376 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 211 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1345978 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 57,864,221 | 57,994,386 |
| nsv1345978 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 57,923,927 | 58,054,092 |
| nsv1345978 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 57,927,869 | 58,058,034 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv7833486 | copy number loss | SNP array | Probe signal intensity |
| nssv7833487 | copy number loss | SNP array | Probe signal intensity |
| nssv7833488 | copy number loss | SNP array | Probe signal intensity |
| nssv7833489 | copy number loss | SNP array | Probe signal intensity |
| nssv7833490 | copy number loss | SNP array | Probe signal intensity |
| nssv8339830 | copy number loss | SNP array | Probe signal intensity |
| nssv8343771 | copy number loss | SNP array | Probe signal intensity |
| nssv8347302 | copy number gain | SNP array | Probe signal intensity |
| nssv8356138 | copy number gain | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7833486 | Remapped | Perfect | NC_000007.14:g.(?_ 57864221)_(5799438 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 57,864,221 | 57,994,386 |
| nssv7833487 | Remapped | Perfect | NC_000007.14:g.(?_ 57864221)_(5799438 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 57,864,221 | 57,994,386 |
| nssv7833488 | Remapped | Perfect | NC_000007.14:g.(?_ 57864221)_(5799438 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 57,864,221 | 57,994,386 |
| nssv7833489 | Remapped | Perfect | NC_000007.14:g.(?_ 57864221)_(5799438 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 57,864,221 | 57,994,386 |
| nssv7833490 | Remapped | Perfect | NC_000007.14:g.(?_ 57864221)_(5799438 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 57,864,221 | 57,994,386 |
| nssv8339830 | Remapped | Perfect | NC_000007.14:g.(?_ 57864221)_(5799438 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 57,864,221 | 57,994,386 |
| nssv8343771 | Remapped | Perfect | NC_000007.14:g.(?_ 57864221)_(5799438 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 57,864,221 | 57,994,386 |
| nssv8347302 | Remapped | Perfect | NC_000007.14:g.(?_ 57864221)_(5799438 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 57,864,221 | 57,994,386 |
| nssv8356138 | Remapped | Perfect | NC_000007.14:g.(?_ 57864221)_(5799438 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 57,864,221 | 57,994,386 |
| nssv7833486 | Remapped | Perfect | NC_000007.13:g.(?_ 57923927)_(5805409 2_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 57,923,927 | 58,054,092 |
| nssv7833487 | Remapped | Perfect | NC_000007.13:g.(?_ 57923927)_(5805409 2_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 57,923,927 | 58,054,092 |
| nssv7833488 | Remapped | Perfect | NC_000007.13:g.(?_ 57923927)_(5805409 2_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 57,923,927 | 58,054,092 |
| nssv7833489 | Remapped | Perfect | NC_000007.13:g.(?_ 57923927)_(5805409 2_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 57,923,927 | 58,054,092 |
| nssv7833490 | Remapped | Perfect | NC_000007.13:g.(?_ 57923927)_(5805409 2_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 57,923,927 | 58,054,092 |
| nssv8339830 | Remapped | Perfect | NC_000007.13:g.(?_ 57923927)_(5805409 2_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 57,923,927 | 58,054,092 |
| nssv8343771 | Remapped | Perfect | NC_000007.13:g.(?_ 57923927)_(5805409 2_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 57,923,927 | 58,054,092 |
| nssv8347302 | Remapped | Perfect | NC_000007.13:g.(?_ 57923927)_(5805409 2_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 57,923,927 | 58,054,092 |
| nssv8356138 | Remapped | Perfect | NC_000007.13:g.(?_ 57923927)_(5805409 2_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 57,923,927 | 58,054,092 |
| nssv7833486 | Submitted genomic | NC_000007.12:g.(?_ 57927869)_(5805803 4_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 57,927,869 | 58,058,034 | ||
| nssv7833487 | Submitted genomic | NC_000007.12:g.(?_ 57927869)_(5805803 4_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 57,927,869 | 58,058,034 | ||
| nssv7833488 | Submitted genomic | NC_000007.12:g.(?_ 57927869)_(5805803 4_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 57,927,869 | 58,058,034 | ||
| nssv7833489 | Submitted genomic | NC_000007.12:g.(?_ 57927869)_(5805803 4_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 57,927,869 | 58,058,034 | ||
| nssv7833490 | Submitted genomic | NC_000007.12:g.(?_ 57927869)_(5805803 4_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 57,927,869 | 58,058,034 | ||
| nssv8339830 | Submitted genomic | NC_000007.12:g.(?_ 57927869)_(5805803 4_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 57,927,869 | 58,058,034 | ||
| nssv8343771 | Submitted genomic | NC_000007.12:g.(?_ 57927869)_(5805803 4_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 57,927,869 | 58,058,034 | ||
| nssv8347302 | Submitted genomic | NC_000007.12:g.(?_ 57927869)_(5805803 4_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 57,927,869 | 58,058,034 | ||
| nssv8356138 | Submitted genomic | NC_000007.12:g.(?_ 57927869)_(5805803 4_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 57,927,869 | 58,058,034 |