nsv4641534
- 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:28,710
- Description:esv3866493 from 1000 Genomes Consortium Phase 3 Integrated SV. 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: 762 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 319 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 763 SVs from 86 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4641534 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 11,362,789 | 11,391,498 |
nsv4641534 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | 557,752 | 572,349 |
nsv4641534 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 11,515,723 | 11,544,432 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16182727 | copy number loss | Curated | Curated |
nssv16206034 | copy number gain | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16182727 | Remapped | Pass | NT_187658.1:g.5577 52_572349del | GRCh38.p12 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | 557,752 | 572,349 |
nssv16206034 | Remapped | Pass | NT_187658.1:g.5577 52_572349dup | GRCh38.p12 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | 557,752 | 572,349 |
nssv16182727 | Remapped | Perfect | NC_000012.12:g.113 62789_11391498del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,362,789 | 11,391,498 |
nssv16206034 | Remapped | Perfect | NC_000012.12:g.113 62789_11391498dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,362,789 | 11,391,498 |
nssv16182727 | Submitted genomic | NC_000012.11:g.115 15723_11544432del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,515,723 | 11,544,432 | ||
nssv16206034 | Submitted genomic | NC_000012.11:g.115 15723_11544432dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,515,723 | 11,544,432 |
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) |
---|---|---|---|
nssv16182727 | 0.081 | 407 | 5008 |
nssv16206034 | 0.073 | 368 | 5008 |