nsv4632159
- 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:117,537
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: 419 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 242 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 402 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4632159 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 41,550,978 | 41,668,514 |
| nsv4632159 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187620.1 | Chr19|NT_1 87620.1 | 13,487 | 131,023 |
| nsv4632159 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 42,057,346 | 42,172,442 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16139832 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16139832 | Remapped | Good | NT_187620.1:g.(?_1 3487)_(131023_?)du p | GRCh38.p12 | Second Pass | NT_187620.1 | Chr19|NT_1 87620.1 | 13,487 | 131,023 |
| nssv16139832 | Remapped | Good | NC_000019.10:g.(?_ 41550978)_(4166851 4_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 41,550,978 | 41,668,514 |
| nssv16139832 | Submitted genomic | NC_000019.9:g.(?_4 2057346)_(42172442 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 42,057,346 | 42,172,442 |
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) |
|---|---|---|---|
| nssv16139832 | <0.001 | 2 | 5919 |