A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238492



Internal ID21686001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81848588..81848588hg38UCSC Ensembl
chr17:79806464..79806464hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381156
hg191156
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719653
Supporting Variants
Samples
Known GenesP4HB
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)nssv17238492
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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