nsv4672348
- 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:2,959
- Description:nsv4624897 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: 540 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 143 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 540 SVs from 42 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4672348 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 28,017,719 | 28,020,677 |
| nsv4672348 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 152,019 | 154,976 |
| nsv4672348 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 152,019 | 154,976 |
| nsv4672348 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 28,262,865 | 28,265,823 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16198586 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16198586 | Remapped | Good | NT_187660.1:g.(?_1 52019)_(154976_?)d el | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 152,019 | 154,976 |
| nssv16198586 | Remapped | Good | NW_011332701.1:g.( ?_152019)_(154976_ ?)del | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 152,019 | 154,976 |
| nssv16198586 | Remapped | Perfect | NC_000015.10:g.(?_ 28017719)_(2802067 7_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 28,017,719 | 28,020,677 |
| nssv16198586 | Submitted genomic | NC_000015.9:g.(?_2 8262865)_(28265823 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 28,262,865 | 28,265,823 |
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) |
|---|---|---|---|
| nssv16198586 | 0.021 | 40 | 1892 |