A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17235532



Internal ID21683041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212097292..212097292hg38UCSC Ensembl
chr1:212270634..212270634hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720985
Supporting Variants
Samples
Known GenesDTL
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)nssv17235532
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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