nsv4670926
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,132
- Description:nsv4629751 from DECIPHER Consensus CNVs. 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: 664 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 664 SVs from 58 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4670926 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 79,014,272 | 79,016,970 |
| nsv4670926 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187666.1 | Chr18|NT_1 87666.1 | 79,387 | 85,957 |
| nsv4670926 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 79,388 | 87,519 |
| nsv4670926 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 76,774,272 | 76,776,970 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16182586 | deletion | Curated | Curated |
| nssv16183848 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16182586 | Remapped | Pass | NT_187666.1:g.(?_7 9387)_(85957_?)del | GRCh38.p12 | Second Pass | NT_187666.1 | Chr18|NT_1 87666.1 | 79,387 | 85,957 |
| nssv16183848 | Remapped | Pass | NT_187666.1:g.(?_7 9387)_(85957_?)dup | GRCh38.p12 | Second Pass | NT_187666.1 | Chr18|NT_1 87666.1 | 79,387 | 85,957 |
| nssv16182586 | Remapped | Pass | NW_003315961.1:g.( ?_79388)_(87519_?) del | GRCh38.p12 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 79,388 | 87,519 |
| nssv16183848 | Remapped | Pass | NW_003315961.1:g.( ?_79388)_(87519_?) dup | GRCh38.p12 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 79,388 | 87,519 |
| nssv16182586 | Remapped | Perfect | NC_000018.10:g.(?_ 79014272)_(7901697 0_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 79,014,272 | 79,016,970 |
| nssv16183848 | Remapped | Perfect | NC_000018.10:g.(?_ 79014272)_(7901697 0_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 79,014,272 | 79,016,970 |
| nssv16182586 | Submitted genomic | NC_000018.9:g.(?_7 6774272)_(76776970 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 76,774,272 | 76,776,970 | ||
| nssv16183848 | Submitted genomic | NC_000018.9:g.(?_7 6774272)_(76776970 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 76,774,272 | 76,776,970 |
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) |
|---|---|---|---|
| nssv16182586 | 0.279 | 236 | 845 |
| nssv16183848 | 0.146 | 123 | 845 |