nsv5389560
- 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:1,370
- Description:nsv4834632 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: 116 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 19 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 116 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5389560 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 47,740,317 | 47,741,686 |
| nsv5389560 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_019805496.1 | Chr11|NW_0 19805496.1 | 172,684 | 174,053 |
| nsv5389560 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 47,761,869 | 47,763,238 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16878293 | deletion | Curated | Curated |
| nssv16887724 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16878293 | Remapped | Perfect | NW_019805496.1:g.1 72684_174053del | GRCh38.p12 | Second Pass | NW_019805496.1 | Chr11|NW_0 19805496.1 | 172,684 | 174,053 |
| nssv16887724 | Remapped | Perfect | NW_019805496.1:g.1 72684_174053del | GRCh38.p12 | Second Pass | NW_019805496.1 | Chr11|NW_0 19805496.1 | 172,684 | 174,053 |
| nssv16878293 | Remapped | Perfect | NC_000011.10:g.477 40317_47741686del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 47,740,317 | 47,741,686 |
| nssv16887724 | Remapped | Perfect | NC_000011.10:g.477 40317_47741686del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 47,740,317 | 47,741,686 |
| nssv16878293 | Submitted genomic | NC_000011.9:g.4776 1869_47763238del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 47,761,869 | 47,763,238 | ||
| nssv16887724 | Submitted genomic | NC_000011.9:g.4776 1869_47763238del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 47,761,869 | 47,763,238 |
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) |
|---|---|---|---|
| nssv16878293 | 0.021 | 615 | 29246 |
| nssv16887724 | 0.026 | 430 | 16834 |