nsv5393080
- 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:185
- Description:nsv4834379 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: 159 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5393080 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 1,670,937 | 1,671,121 |
| nsv5393080 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187657.1 | Chr11|NT_1 87657.1 | 144,725 | 144,909 |
| nsv5393080 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187584.1 | Chr11|NT_1 87584.1 | 153,174 | 153,358 |
| nsv5393080 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 1,692,167 | 1,692,351 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16872212 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16872212 | Remapped | Perfect | NT_187657.1:g.1447 25_144909dup | GRCh38.p12 | Second Pass | NT_187657.1 | Chr11|NT_1 87657.1 | 144,725 | 144,909 |
| nssv16872212 | Remapped | Perfect | NT_187584.1:g.1531 74_153358dup | GRCh38.p12 | Second Pass | NT_187584.1 | Chr11|NT_1 87584.1 | 153,174 | 153,358 |
| nssv16872212 | Remapped | Perfect | NC_000011.10:g.167 0937_1671121dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,670,937 | 1,671,121 |
| nssv16872212 | Submitted genomic | NC_000011.9:g.1692 167_1692351dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,692,167 | 1,692,351 |
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) |
|---|---|---|---|
| nssv16872212 | 0.127 | 2131 | 16834 |