nsv4366223
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:50,674
- 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: 713 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 310 SVs from 43 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4366223 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 719,008 | 769,681 |
| nsv4366223 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 55,247,894 | 55,298,567 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15632604 | copy number loss | 10-1019-001 | SNP array | Genotyping | 20 |
| nssv15689783 | copy number loss | OCD1149-8961133 | SNP array | Genotyping | 18 |
| nssv15691512 | copy number loss | OCD52-S_0625-8219-1 | SNP array | Genotyping | 20 |
| nssv15695829 | copy number loss | 207951 | SNP array | Genotyping | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15632604 | Remapped | Perfect | NT_187693.1:g.(?_7 19008)_(769681_?)d el | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 719,008 | 769,681 |
| nssv15689783 | Remapped | Perfect | NT_187693.1:g.(?_7 19008)_(769681_?)d el | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 719,008 | 769,681 |
| nssv15691512 | Remapped | Perfect | NT_187693.1:g.(?_7 19008)_(769681_?)d el | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 719,008 | 769,681 |
| nssv15695829 | Remapped | Perfect | NT_187693.1:g.(?_7 19008)_(769681_?)d el | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 719,008 | 769,681 |
| nssv15632604 | Submitted genomic | NC_000019.9:g.(?_5 5247894)_(55298567 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,247,894 | 55,298,567 | ||
| nssv15689783 | Submitted genomic | NC_000019.9:g.(?_5 5247894)_(55298567 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,247,894 | 55,298,567 | ||
| nssv15691512 | Submitted genomic | NC_000019.9:g.(?_5 5247894)_(55298567 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,247,894 | 55,298,567 | ||
| nssv15695829 | Submitted genomic | NC_000019.9:g.(?_5 5247894)_(55298567 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,247,894 | 55,298,567 |