nsv5389308
- 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:330
- Description:nsv4910509 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 68 studies. See in: genome view
Overlapping variant regions from other studies: 602 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 602 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 1054 SVs from 68 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5389308 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 241,989,905 | 241,990,234 |
| nsv5389308 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 28,600 | 28,929 |
| nsv5389308 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 28,600 | 28,929 |
| nsv5389308 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,932,056 | 242,932,385 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16875754 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16875754 | Remapped | Perfect | NT_187523.1:g.2860 0_28929del | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 28,600 | 28,929 |
| nssv16875754 | Remapped | Perfect | NT_187647.1:g.2860 0_28929del | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 28,600 | 28,929 |
| nssv16875754 | Remapped | Perfect | NC_000002.12:g.241 989905_241990234de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,989,905 | 241,990,234 |
| nssv16875754 | Submitted genomic | NC_000002.11:g.242 932056_242932385de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,932,056 | 242,932,385 |
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) |
|---|---|---|---|
| nssv16875754 | 0.242 | 607 | 2504 |