nsv4625585
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:30,061
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: 257 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 442 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4625585 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_3 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 44,856 | 74,916 |
| nsv4625585 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 42,518,238 | 42,548,577 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16152703 | deletion | Curated | Curated |
| nssv16152704 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16152703 | Remapped | Good | NT_187682.1:g.(?_4 4856)_(74916_?)del | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 44,856 | 74,916 |
| nssv16152704 | Remapped | Good | NT_187682.1:g.(?_4 4856)_(74916_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 44,856 | 74,916 |
| nssv16152703 | Submitted genomic | NC_000022.10:g.(?_ 42518238)_(4254857 7_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,518,238 | 42,548,577 | ||
| nssv16152704 | Submitted genomic | NC_000022.10:g.(?_ 42518238)_(4254857 7_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,518,238 | 42,548,577 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16152703 | 0.1 | 4 | 40 |
| nssv16152704 | 0.175 | 7 | 40 |