nsv4664083
- 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:253
- Description:nsv4591658 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: 165 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 34 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 165 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4664083 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 79,972,947 | 79,973,199 |
| nsv4664083 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646199.1 | Chr5|NW_00 9646199.1 | 115,338 | 115,590 |
| nsv4664083 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 80,894,101 | 80,894,353 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16197810 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16197810 | Remapped | Perfect | NC_000004.12:g.(?_ 79972947)_(7997319 9_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 79,972,947 | 79,973,199 |
| nssv16197810 | Remapped | Perfect | NW_009646199.1:g.( ?_115338)_(115590_ ?)dup | GRCh38.p12 | Second Pass | NW_009646199.1 | Chr5|NW_00 9646199.1 | 115,338 | 115,590 |
| nssv16197810 | Submitted genomic | NC_000004.11:g.(?_ 80894101)_(8089435 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 80,894,101 | 80,894,353 |
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) |
|---|---|---|---|
| nssv16197810 | 0.022 | 19 | 845 |