A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249833



Internal ID21697342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67557961..67557961hg38UCSC Ensembl
chr8:68470196..68470196hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg381300
hg191300
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717880
Supporting Variants
Samples
Known GenesCPA6
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)nssv17249833
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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