nsv5386874
- 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:853
- Description:nsv4790224 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: 1054 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 656 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 656 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 1054 SVs from 74 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5386874 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 242,046,708 | 242,047,560 |
| nsv5386874 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 90,418 | 91,270 |
| nsv5386874 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 90,778 | 91,630 |
| nsv5386874 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,988,859 | 242,989,711 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16886791 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16886791 | Remapped | Perfect | NT_187647.1:g.9041 8_91270del | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 90,418 | 91,270 |
| nssv16886791 | Remapped | Perfect | NT_187523.1:g.9077 8_91630del | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 90,778 | 91,630 |
| nssv16886791 | Remapped | Perfect | NC_000002.12:g.242 046708_242047560de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 242,046,708 | 242,047,560 |
| nssv16886791 | Submitted genomic | NC_000002.11:g.242 988859_242989711de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,988,859 | 242,989,711 |
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) |
|---|---|---|---|
| nssv16886791 | 0.111 | 1869 | 16824 |