A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15861564



Internal ID19586818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:30513966..30688897hg38UCSC Ensembl
chr21:31886284..32061215hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38174932
hg19174932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4287786
Supporting Variants
Samples
Known GenesKRTAP19-6, KRTAP19-7, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP22-1, KRTAP22-2, KRTAP6-1, KRTAP6-2, KRTAP6-3
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15861564
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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