A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244304



Internal ID21691813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:86443248..86443248hg38UCSC Ensembl
chr10:88203005..88203005hg19UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg38448
hg19448
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721226
Supporting Variants
Samples
Known GenesWAPAL
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)nssv17244304
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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