nsv4369275
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:72,008
- 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: 870 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 367 SVs from 44 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4369275 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 723,148 | 795,155 |
| nsv4369275 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 55,252,034 | 55,324,041 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15615454 | copy number gain | 1-0774-003 | SNP array | Genotyping | 21 |
| nssv15615878 | copy number gain | 1-0789-003 | SNP array | Genotyping | 18 |
| nssv15662024 | copy number gain | 5-0074-003 | SNP array | Genotyping | 19 |
| nssv15674872 | copy number gain | 208026 | SNP array | Genotyping | 20 |
| nssv15680087 | copy number gain | 208030 | SNP array | Genotyping | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15615454 | Remapped | Perfect | NT_187693.1:g.(?_7 23148)_(795155_?)d up | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 723,148 | 795,155 |
| nssv15615878 | Remapped | Perfect | NT_187693.1:g.(?_7 23148)_(795155_?)d up | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 723,148 | 795,155 |
| nssv15662024 | Remapped | Perfect | NT_187693.1:g.(?_7 23148)_(795155_?)d up | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 723,148 | 795,155 |
| nssv15674872 | Remapped | Perfect | NT_187693.1:g.(?_7 23148)_(795155_?)d up | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 723,148 | 795,155 |
| nssv15680087 | Remapped | Perfect | NT_187693.1:g.(?_7 23148)_(795155_?)d up | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 723,148 | 795,155 |
| nssv15615454 | Submitted genomic | NC_000019.9:g.(?_5 5252034)_(55324041 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,252,034 | 55,324,041 | ||
| nssv15615878 | Submitted genomic | NC_000019.9:g.(?_5 5252034)_(55324041 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,252,034 | 55,324,041 | ||
| nssv15662024 | Submitted genomic | NC_000019.9:g.(?_5 5252034)_(55324041 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,252,034 | 55,324,041 | ||
| nssv15674872 | Submitted genomic | NC_000019.9:g.(?_5 5252034)_(55324041 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,252,034 | 55,324,041 | ||
| nssv15680087 | Submitted genomic | NC_000019.9:g.(?_5 5252034)_(55324041 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,252,034 | 55,324,041 |