A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4234438



Internal ID20087076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2947095..3056640hg38UCSC Ensembl
chr16:2997096..3106641hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38109546
hg19109546
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15954106
Samples
Known GenesCCDC64B, CLDN6, CLDN9, FLYWCH1, HCFC1R1, KREMEN2, LINC00514, LOC100128770, MMP25, PAQR4, PKMYT1, THOC6, TNFRSF12A
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)nsv4234438
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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