A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791713



Internal ID19517108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:8435371..8776126hg38UCSC Ensembl
chrX:8403412..8744167hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38340756
hg19340756
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4321210
Supporting Variants
Samples
Known GenesKAL1, VCX3B
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15791713
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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