nsv5390647
- 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:391
- Description:nsv4854841 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: 434 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 46 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 46 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 434 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5390647 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 78,964,900 | 78,965,290 |
| nsv5390647 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187666.1 | Chr18|NT_1 87666.1 | 30,015 | 30,405 |
| nsv5390647 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 30,015 | 30,405 |
| nsv5390647 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 76,724,900 | 76,725,290 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16868472 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16868472 | Remapped | Perfect | NT_187666.1:g.3001 5_30405dup | GRCh38.p12 | Second Pass | NT_187666.1 | Chr18|NT_1 87666.1 | 30,015 | 30,405 |
| nssv16868472 | Remapped | Perfect | NW_003315961.1:g.3 0015_30405dup | GRCh38.p12 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 30,015 | 30,405 |
| nssv16868472 | Remapped | Perfect | NC_000018.10:g.789 64900_78965290dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 78,964,900 | 78,965,290 |
| nssv16868472 | Submitted genomic | NC_000018.9:g.7672 4900_76725290dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 76,724,900 | 76,725,290 |
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) |
|---|---|---|---|
| nssv16868472 | 0.188 | 3165 | 16834 |