nsv4631929
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,395
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: 164 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 19 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4631929 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 40,998,107 | 41,000,501 |
| nsv4631929 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 147,502 | 149,896 |
| nsv4631929 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 39,154,359 | 39,156,753 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16138090 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16138090 | Remapped | Perfect | NW_003871091.1:g.( ?_147502)_(149896_ ?)del | GRCh38.p12 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 147,502 | 149,896 |
| nssv16138090 | Remapped | Perfect | NC_000017.11:g.(?_ 40998107)_(4100050 1_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 40,998,107 | 41,000,501 |
| nssv16138090 | Submitted genomic | NC_000017.10:g.(?_ 39154359)_(3915675 3_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 39,154,359 | 39,156,753 |
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) |
|---|---|---|---|
| nssv16138090 | 0.025 | 1 | 40 |