nsv5390143
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:76
- Description:nsv4844369 from Abel et. al 2020. 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: 174 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 174 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5390143 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 90,159,916 | 90,159,991 |
| nsv5390143 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_019805497.1 | Chr11|NW_0 19805497.1 | 66,039 | 66,114 |
| nsv5390143 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 89,893,084 | 89,893,159 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16872412 | duplication | Curated | Curated |
| nssv16882595 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16872412 | Remapped | Perfect | NW_019805497.1:g.6 6039_66114dup | GRCh38.p12 | Second Pass | NW_019805497.1 | Chr11|NW_0 19805497.1 | 66,039 | 66,114 |
| nssv16882595 | Remapped | Perfect | NW_019805497.1:g.6 6039_66114dup | GRCh38.p12 | Second Pass | NW_019805497.1 | Chr11|NW_0 19805497.1 | 66,039 | 66,114 |
| nssv16872412 | Remapped | Perfect | NC_000011.10:g.901 59916_90159991dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 90,159,916 | 90,159,991 |
| nssv16882595 | Remapped | Perfect | NC_000011.10:g.901 59916_90159991dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 90,159,916 | 90,159,991 |
| nssv16872412 | Submitted genomic | NC_000011.9:g.8989 3084_89893159dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 89,893,084 | 89,893,159 | ||
| nssv16882595 | Submitted genomic | NC_000011.9:g.8989 3084_89893159dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 89,893,084 | 89,893,159 |
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) |
|---|---|---|---|
| nssv16872412 | 0.1 | 2922 | 29246 |
| nssv16882595 | 0.097 | 1633 | 16834 |