nsv4365597
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:27,547
- 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: 1839 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1844 SVs from 84 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4365597 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 33,794,295 | 33,821,841 |
| nsv4365597 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 33,596,762 | 33,624,308 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15630648 | copy number loss | 1-0600-003 | SNP array | Genotyping | 25 |
| nssv15639719 | copy number gain | 14-0145-001 | SNP array | Genotyping | 23 |
| nssv15643048 | copy number gain | 14-0325-001 | SNP array | Genotyping | 29 |
| nssv15643202 | copy number gain | 14-0361-003 | SNP array | Genotyping | 21 |
| nssv15669139 | copy number gain | 7-0135-003 | SNP array | Genotyping | 25 |
| nssv15677509 | copy number gain | 218111 | SNP array | Genotyping | 26 |
| nssv15677644 | copy number gain | 218118 | SNP array | Genotyping | 29 |
| nssv15677896 | copy number gain | 219448 | SNP array | Genotyping | 15 |
| nssv15679823 | copy number gain | 213162 | SNP array | Genotyping | 15 |
| nssv15679886 | copy number gain | 211603 | SNP array | Genotyping | 19 |
| nssv15680671 | copy number gain | 215270 | SNP array | Genotyping | 21 |
| nssv15682065 | copy number gain | 218113 | SNP array | Genotyping | 18 |
| nssv15682089 | copy number gain | 218112 | SNP array | Genotyping | 38 |
| nssv15682188 | copy number gain | 219368 | SNP array | Genotyping | 29 |
| nssv15702887 | copy number loss | 202163 | SNP array | Genotyping | 29 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15630648 | Remapped | Perfect | NC_000016.10:g.(?_ 33794295)_(3382184 1_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 33,794,295 | 33,821,841 |
| nssv15639719 | Remapped | Perfect | NC_000016.10:g.(?_ 33794295)_(3382184 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 33,794,295 | 33,821,841 |
| nssv15643048 | Remapped | Perfect | NC_000016.10:g.(?_ 33794295)_(3382184 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 33,794,295 | 33,821,841 |
| nssv15643202 | Remapped | Perfect | NC_000016.10:g.(?_ 33794295)_(3382184 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 33,794,295 | 33,821,841 |
| nssv15669139 | Remapped | Perfect | NC_000016.10:g.(?_ 33794295)_(3382184 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 33,794,295 | 33,821,841 |
| nssv15677509 | Remapped | Perfect | NC_000016.10:g.(?_ 33794295)_(3382184 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 33,794,295 | 33,821,841 |
| nssv15677644 | Remapped | Perfect | NC_000016.10:g.(?_ 33794295)_(3382184 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 33,794,295 | 33,821,841 |
| nssv15677896 | Remapped | Perfect | NC_000016.10:g.(?_ 33794295)_(3382184 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 33,794,295 | 33,821,841 |
| nssv15679823 | Remapped | Perfect | NC_000016.10:g.(?_ 33794295)_(3382184 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 33,794,295 | 33,821,841 |
| nssv15679886 | Remapped | Perfect | NC_000016.10:g.(?_ 33794295)_(3382184 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 33,794,295 | 33,821,841 |
| nssv15680671 | Remapped | Perfect | NC_000016.10:g.(?_ 33794295)_(3382184 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 33,794,295 | 33,821,841 |
| nssv15682065 | Remapped | Perfect | NC_000016.10:g.(?_ 33794295)_(3382184 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 33,794,295 | 33,821,841 |
| nssv15682089 | Remapped | Perfect | NC_000016.10:g.(?_ 33794295)_(3382184 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 33,794,295 | 33,821,841 |
| nssv15682188 | Remapped | Perfect | NC_000016.10:g.(?_ 33794295)_(3382184 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 33,794,295 | 33,821,841 |
| nssv15702887 | Remapped | Perfect | NC_000016.10:g.(?_ 33794295)_(3382184 1_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 33,794,295 | 33,821,841 |
| nssv15630648 | Submitted genomic | NC_000016.9:g.(?_3 3596762)_(33624308 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 33,596,762 | 33,624,308 | ||
| nssv15639719 | Submitted genomic | NC_000016.9:g.(?_3 3596762)_(33624308 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 33,596,762 | 33,624,308 | ||
| nssv15643048 | Submitted genomic | NC_000016.9:g.(?_3 3596762)_(33624308 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 33,596,762 | 33,624,308 | ||
| nssv15643202 | Submitted genomic | NC_000016.9:g.(?_3 3596762)_(33624308 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 33,596,762 | 33,624,308 | ||
| nssv15669139 | Submitted genomic | NC_000016.9:g.(?_3 3596762)_(33624308 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 33,596,762 | 33,624,308 | ||
| nssv15677509 | Submitted genomic | NC_000016.9:g.(?_3 3596762)_(33624308 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 33,596,762 | 33,624,308 | ||
| nssv15677644 | Submitted genomic | NC_000016.9:g.(?_3 3596762)_(33624308 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 33,596,762 | 33,624,308 | ||
| nssv15677896 | Submitted genomic | NC_000016.9:g.(?_3 3596762)_(33624308 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 33,596,762 | 33,624,308 | ||
| nssv15679823 | Submitted genomic | NC_000016.9:g.(?_3 3596762)_(33624308 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 33,596,762 | 33,624,308 | ||
| nssv15679886 | Submitted genomic | NC_000016.9:g.(?_3 3596762)_(33624308 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 33,596,762 | 33,624,308 | ||
| nssv15680671 | Submitted genomic | NC_000016.9:g.(?_3 3596762)_(33624308 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 33,596,762 | 33,624,308 | ||
| nssv15682065 | Submitted genomic | NC_000016.9:g.(?_3 3596762)_(33624308 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 33,596,762 | 33,624,308 | ||
| nssv15682089 | Submitted genomic | NC_000016.9:g.(?_3 3596762)_(33624308 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 33,596,762 | 33,624,308 | ||
| nssv15682188 | Submitted genomic | NC_000016.9:g.(?_3 3596762)_(33624308 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 33,596,762 | 33,624,308 | ||
| nssv15702887 | Submitted genomic | NC_000016.9:g.(?_3 3596762)_(33624308 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 33,596,762 | 33,624,308 |