A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17237387



Internal ID21684896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:139765853..139765853hg38UCSC Ensembl
chrX:138848012..138848012hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg38826
hg19826
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715304
Supporting Variants
Samples
Known GenesATP11C
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)nssv17237387
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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