A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17252791



Internal ID21700300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:8729812..8729812hg38UCSC Ensembl
chrX:8697853..8697853hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718168
Supporting Variants
Samples
Known GenesKAL1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17252791
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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