A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17253044



Internal ID21700553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41038438..41038438hg38UCSC Ensembl
chr4:41040455..41040455hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38755
hg19755
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727794
Supporting Variants
Samples
Known GenesAPBB2
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)nssv17253044
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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