A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15928646



Internal ID19653900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53755701..53756042hg38UCSC Ensembl
chr8:54668261..54668602hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4169630
Supporting Variants
Samples
Known GenesATP6V1H
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)nssv15928646
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.022435


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