nsv4667628
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,267
- Description:nsv4626857 from DECIPHER Consensus CNVs. For a full list of variants now included in nstd186, refer to the mapping file provided here.
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: 220 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 220 SVs from 39 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4667628 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 77,267,821 | 77,277,087 |
| nsv4667628 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315955.1 | Chr17|NW_0 03315955.1 | 58,714 | 67,980 |
| nsv4667628 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 75,263,903 | 75,273,169 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16201319 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16201319 | Remapped | Perfect | NW_003315955.1:g.( ?_58714)_(67980_?) del | GRCh38.p12 | Second Pass | NW_003315955.1 | Chr17|NW_0 03315955.1 | 58,714 | 67,980 |
| nssv16201319 | Remapped | Perfect | NC_000017.11:g.(?_ 77267821)_(7727708 7_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 77,267,821 | 77,277,087 |
| nssv16201319 | Submitted genomic | NC_000017.10:g.(?_ 75263903)_(7527316 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 75,263,903 | 75,273,169 |
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) |
|---|---|---|---|
| nssv16201319 | 0.011 | 20 | 1892 |