A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249048



Internal ID21696557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71007356..71007356hg38UCSC Ensembl
chr4:71873073..71873073hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38676
hg19676
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719251
Supporting Variants
Samples
Known GenesDCK
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)nssv17249048
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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