A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249205



Internal ID21696714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10164145..10164145hg38UCSC Ensembl
chr2:10304271..10304271hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720975
Supporting Variants
Samples
Known GenesC2orf48
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)nssv17249205
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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