nsv5388774
- 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:924
- Description:nsv4914176 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: 450 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 65 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 455 SVs from 56 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5388774 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 241,819,244 | 241,820,167 |
| nsv5388774 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187527.1 | Chr2|NT_18 7527.1 | 31,371 | 32,267 |
| nsv5388774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,760,572 | 242,762,352 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16882032 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16882032 | Remapped | Pass | NT_187527.1:g.3137 1_32267dup | GRCh38.p12 | First Pass | NT_187527.1 | Chr2|NT_18 7527.1 | 31,371 | 32,267 |
| nssv16882032 | Remapped | Pass | NC_000002.12:g.241 819244_241820167du p | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,819,244 | 241,820,167 |
| nssv16882032 | Submitted genomic | NC_000002.11:g.242 760572_242762352du p | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,760,572 | 242,762,352 |
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) |
|---|---|---|---|
| nssv16882032 | 0.155 | 4543 | 29246 |