nsv5389716
- 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:462
- Description:nsv4864413 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: 329 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 53 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 201 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5389716 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 367,015 | 367,476 |
| nsv5389716 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187662.1 | Chr17|NT_1 87662.1 | 35,162 | 35,623 |
| nsv5389716 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 340,069 | 340,530 |
| nsv5389716 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 216,806 | 217,267 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16870083 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16870083 | Remapped | Perfect | NT_187662.1:g.3516 2_35623dup | GRCh38.p12 | Second Pass | NT_187662.1 | Chr17|NT_1 87662.1 | 35,162 | 35,623 |
| nssv16870083 | Remapped | Perfect | NW_003315952.3:g.3 40069_340530dup | GRCh38.p12 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 340,069 | 340,530 |
| nssv16870083 | Remapped | Perfect | NC_000017.11:g.367 015_367476dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 367,015 | 367,476 |
| nssv16870083 | Submitted genomic | NC_000017.10:g.216 806_217267dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 216,806 | 217,267 |
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) |
|---|---|---|---|
| nssv16870083 | 0.376 | 6328 | 16834 |