A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15964985



Internal ID20036928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:30551347..30621373hg38UCSC Ensembl
chr21:31923666..31993692hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3870027
hg1970027
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4290744
Supporting Variants
Samples
Known GenesKRTAP19-7, KRTAP20-1, 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 ID32461652
Accession Number(s)nssv15964985
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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