A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17199884



Internal ID21647393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44111017..44111017hg38UCSC Ensembl
chr19:44615170..44615170hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5713981
Supporting Variants
Samples
Known GenesLOC100379224
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17199884
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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