nsv442780
- Organism: Homo sapiens
- Study:nstd22 (McCarroll et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:40,100
- Publication(s):McCarroll et al. 2008
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: 491 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 491 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv442780 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,186,869 |
| nsv442780 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,413,992 |
| nsv442780 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 87,285,551 | 87,325,650 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1620826 | copy number gain | NA07000 | SNP array | Probe signal intensity | 3 | 154 |
| nssv1620827 | copy number gain | NA07034 | SNP array | Probe signal intensity | 4 | 143 |
| nssv1620828 | copy number gain | NA07048 | SNP array | Probe signal intensity | 4 | 138 |
| nssv1620829 | copy number gain | NA12044 | SNP array | Probe signal intensity | 3 | 163 |
| nssv1620830 | copy number gain | NA12146 | SNP array | Probe signal intensity | 3 | 154 |
| nssv1620831 | copy number gain | NA12239 | SNP array | Probe signal intensity | 4 | 165 |
| nssv1620832 | copy number gain | NA12761 | SNP array | Probe signal intensity | 3 | 157 |
| nssv1620833 | copy number gain | NA18552 | SNP array | Probe signal intensity | 3 | 168 |
| nssv1620834 | copy number gain | NA18961 | SNP array | Probe signal intensity | 3 | 121 |
| nssv1620835 | copy number gain | NA18965 | SNP array | Probe signal intensity | 3 | 156 |
| nssv1620836 | copy number loss | NA11831 | SNP array | Probe signal intensity | 1 | 144 |
| nssv1620837 | copy number loss | NA18870 | SNP array | Probe signal intensity | 1 | 192 |
| nssv1620838 | copy number loss | NA18872 | SNP array | Probe signal intensity | 1 | 180 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1620826 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718686 9_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,186,869 |
| nssv1620827 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718686 9_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,186,869 |
| nssv1620828 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718686 9_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,186,869 |
| nssv1620829 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718686 9_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,186,869 |
| nssv1620830 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718686 9_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,186,869 |
| nssv1620831 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718686 9_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,186,869 |
| nssv1620832 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718686 9_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,186,869 |
| nssv1620833 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718686 9_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,186,869 |
| nssv1620834 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718686 9_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,186,869 |
| nssv1620835 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718686 9_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,186,869 |
| nssv1620836 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718686 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,186,869 |
| nssv1620837 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718686 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,186,869 |
| nssv1620838 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718686 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,186,869 |
| nssv1620826 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741399 2_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,413,992 |
| nssv1620827 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741399 2_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,413,992 |
| nssv1620828 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741399 2_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,413,992 |
| nssv1620829 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741399 2_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,413,992 |
| nssv1620830 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741399 2_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,413,992 |
| nssv1620831 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741399 2_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,413,992 |
| nssv1620832 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741399 2_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,413,992 |
| nssv1620833 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741399 2_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,413,992 |
| nssv1620834 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741399 2_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,413,992 |
| nssv1620835 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741399 2_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,413,992 |
| nssv1620836 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741399 2_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,413,992 |
| nssv1620837 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741399 2_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,413,992 |
| nssv1620838 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741399 2_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,413,992 |
| nssv1620826 | Submitted genomic | NC_000002.9:g.(?_8 7285551)_(87325650 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 87,285,551 | 87,325,650 | ||
| nssv1620827 | Submitted genomic | NC_000002.9:g.(?_8 7285551)_(87325650 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 87,285,551 | 87,325,650 | ||
| nssv1620828 | Submitted genomic | NC_000002.9:g.(?_8 7285551)_(87325650 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 87,285,551 | 87,325,650 | ||
| nssv1620829 | Submitted genomic | NC_000002.9:g.(?_8 7285551)_(87325650 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 87,285,551 | 87,325,650 | ||
| nssv1620830 | Submitted genomic | NC_000002.9:g.(?_8 7285551)_(87325650 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 87,285,551 | 87,325,650 | ||
| nssv1620831 | Submitted genomic | NC_000002.9:g.(?_8 7285551)_(87325650 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 87,285,551 | 87,325,650 | ||
| nssv1620832 | Submitted genomic | NC_000002.9:g.(?_8 7285551)_(87325650 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 87,285,551 | 87,325,650 | ||
| nssv1620833 | Submitted genomic | NC_000002.9:g.(?_8 7285551)_(87325650 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 87,285,551 | 87,325,650 | ||
| nssv1620834 | Submitted genomic | NC_000002.9:g.(?_8 7285551)_(87325650 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 87,285,551 | 87,325,650 | ||
| nssv1620835 | Submitted genomic | NC_000002.9:g.(?_8 7285551)_(87325650 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 87,285,551 | 87,325,650 | ||
| nssv1620836 | Submitted genomic | NC_000002.9:g.(?_8 7285551)_(87325650 _?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 87,285,551 | 87,325,650 | ||
| nssv1620837 | Submitted genomic | NC_000002.9:g.(?_8 7285551)_(87325650 _?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 87,285,551 | 87,325,650 | ||
| nssv1620838 | Submitted genomic | NC_000002.9:g.(?_8 7285551)_(87325650 _?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 87,285,551 | 87,325,650 |