A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4321210



Internal ID19838339
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 StatusM
Merged Variantsdgv2864n166
Supporting Variantsnssv15791713
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)nsv4321210
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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