A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239248



Internal ID21686757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135952125..135952125hg38UCSC Ensembl
chr2:136709695..136709695hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38793
hg19793
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730460
Supporting Variants
Samples
Known GenesDARS
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)nssv17239248
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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