nsv4374911
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: No
- Region Size:186,455
- Publication(s):Zarrei et al. 2019
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: 911 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1186 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1560 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4374911 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,785,829 |
| nsv4374911 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 622,348 | 808,802 |
| nsv4374911 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 142,227,556 | 142,493,638 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15626102 | copy number gain | 1-0432-002 | SNP array | Genotyping | 17 |
| nssv15650392 | copy number gain | 2-1473-004 | SNP array | Genotyping | 32 |
| nssv15678770 | copy number gain | 242268S | SNP array | Genotyping | 22 |
| nssv15679373 | copy number gain | 222677 | SNP array | Genotyping | 27 |
| nssv15682644 | copy number gain | OCD1125-896863 | SNP array | Genotyping | 20 |
| nssv15683984 | copy number gain | OCD138-0625-3695-2 | SNP array | Genotyping | 21 |
| nssv15685656 | copy number gain | OCD169-8961251 | SNP array | Genotyping | 22 |
| nssv15687123 | copy number gain | OCD32-S_896581 | SNP array | Genotyping | 31 |
| nssv15687427 | copy number gain | OCD49-0625-7114-2 | SNP array | Genotyping | 24 |
| nssv15687617 | copy number gain | OCD165-8961161 | SNP array | Genotyping | 15 |
| nssv15688112 | copy number gain | 209353 | SNP array | Genotyping | 29 |
| nssv15688138 | copy number gain | 209355 | SNP array | Genotyping | 28 |
| nssv15689790 | copy number gain | OCD1149-8961133 | SNP array | Genotyping | 18 |
| nssv15696678 | copy number gain | 173088 | SNP array | Genotyping | 22 |
| nssv15697628 | copy number gain | 170927 | SNP array | Genotyping | 19 |
| nssv15701246 | copy number gain | 183057 | SNP array | Genotyping | 24 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15626102 | Remapped | Pass | NT_187562.1:g.(?_6 22348)_(808802_?)d up | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 622,348 | 808,802 |
| nssv15650392 | Remapped | Pass | NT_187562.1:g.(?_6 22348)_(808802_?)d up | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 622,348 | 808,802 |
| nssv15678770 | Remapped | Pass | NT_187562.1:g.(?_6 22348)_(808802_?)d up | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 622,348 | 808,802 |
| nssv15679373 | Remapped | Pass | NT_187562.1:g.(?_6 22348)_(808802_?)d up | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 622,348 | 808,802 |
| nssv15682644 | Remapped | Pass | NT_187562.1:g.(?_6 22348)_(808802_?)d up | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 622,348 | 808,802 |
| nssv15683984 | Remapped | Pass | NT_187562.1:g.(?_6 22348)_(808802_?)d up | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 622,348 | 808,802 |
| nssv15685656 | Remapped | Pass | NT_187562.1:g.(?_6 22348)_(808802_?)d up | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 622,348 | 808,802 |
| nssv15687123 | Remapped | Pass | NT_187562.1:g.(?_6 22348)_(808802_?)d up | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 622,348 | 808,802 |
| nssv15687427 | Remapped | Pass | NT_187562.1:g.(?_6 22348)_(808802_?)d up | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 622,348 | 808,802 |
| nssv15687617 | Remapped | Pass | NT_187562.1:g.(?_6 22348)_(808802_?)d up | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 622,348 | 808,802 |
| nssv15688112 | Remapped | Pass | NT_187562.1:g.(?_6 22348)_(808802_?)d up | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 622,348 | 808,802 |
| nssv15688138 | Remapped | Pass | NT_187562.1:g.(?_6 22348)_(808802_?)d up | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 622,348 | 808,802 |
| nssv15689790 | Remapped | Pass | NT_187562.1:g.(?_6 22348)_(808802_?)d up | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 622,348 | 808,802 |
| nssv15696678 | Remapped | Pass | NT_187562.1:g.(?_6 22348)_(808802_?)d up | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 622,348 | 808,802 |
| nssv15697628 | Remapped | Pass | NT_187562.1:g.(?_6 22348)_(808802_?)d up | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 622,348 | 808,802 |
| nssv15701246 | Remapped | Pass | NT_187562.1:g.(?_6 22348)_(808802_?)d up | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 622,348 | 808,802 |
| nssv15626102 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,785,829 |
| nssv15650392 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,785,829 |
| nssv15678770 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,785,829 |
| nssv15679373 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,785,829 |
| nssv15682644 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,785,829 |
| nssv15683984 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,785,829 |
| nssv15685656 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,785,829 |
| nssv15687123 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,785,829 |
| nssv15687427 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,785,829 |
| nssv15687617 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,785,829 |
| nssv15688112 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,785,829 |
| nssv15688138 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,785,829 |
| nssv15689790 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,785,829 |
| nssv15696678 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,785,829 |
| nssv15697628 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,785,829 |
| nssv15701246 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,785,829 |
| nssv15626102 | Submitted genomic | NC_000007.13:g.(?_ 142227556)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,227,556 | 142,493,638 | ||
| nssv15650392 | Submitted genomic | NC_000007.13:g.(?_ 142227556)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,227,556 | 142,493,638 | ||
| nssv15678770 | Submitted genomic | NC_000007.13:g.(?_ 142227556)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,227,556 | 142,493,638 | ||
| nssv15679373 | Submitted genomic | NC_000007.13:g.(?_ 142227556)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,227,556 | 142,493,638 | ||
| nssv15682644 | Submitted genomic | NC_000007.13:g.(?_ 142227556)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,227,556 | 142,493,638 | ||
| nssv15683984 | Submitted genomic | NC_000007.13:g.(?_ 142227556)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,227,556 | 142,493,638 | ||
| nssv15685656 | Submitted genomic | NC_000007.13:g.(?_ 142227556)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,227,556 | 142,493,638 | ||
| nssv15687123 | Submitted genomic | NC_000007.13:g.(?_ 142227556)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,227,556 | 142,493,638 | ||
| nssv15687427 | Submitted genomic | NC_000007.13:g.(?_ 142227556)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,227,556 | 142,493,638 | ||
| nssv15687617 | Submitted genomic | NC_000007.13:g.(?_ 142227556)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,227,556 | 142,493,638 | ||
| nssv15688112 | Submitted genomic | NC_000007.13:g.(?_ 142227556)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,227,556 | 142,493,638 | ||
| nssv15688138 | Submitted genomic | NC_000007.13:g.(?_ 142227556)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,227,556 | 142,493,638 | ||
| nssv15689790 | Submitted genomic | NC_000007.13:g.(?_ 142227556)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,227,556 | 142,493,638 | ||
| nssv15696678 | Submitted genomic | NC_000007.13:g.(?_ 142227556)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,227,556 | 142,493,638 | ||
| nssv15697628 | Submitted genomic | NC_000007.13:g.(?_ 142227556)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,227,556 | 142,493,638 | ||
| nssv15701246 | Submitted genomic | NC_000007.13:g.(?_ 142227556)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,227,556 | 142,493,638 |