nsv4622332
- 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:8,637
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: 180 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 28 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 178 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4622332 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 40,993,489 | 41,002,125 |
| nsv4622332 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 142,884 | 151,520 |
| nsv4622332 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 39,149,741 | 39,158,377 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16150409 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16150409 | Remapped | Perfect | NW_003871091.1:g.( ?_142884)_(151520_ ?)dup | GRCh38.p12 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 142,884 | 151,520 |
| nssv16150409 | Remapped | Perfect | NC_000017.11:g.(?_ 40993489)_(4100212 5_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 40,993,489 | 41,002,125 |
| nssv16150409 | Submitted genomic | NC_000017.10:g.(?_ 39149741)_(3915837 7_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 39,149,741 | 39,158,377 |
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) |
|---|---|---|---|
| nssv16150409 | <0.001 | 2 | 5919 |