A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239505



Internal ID21687014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56174000..56174000hg38UCSC Ensembl
chr12:56567784..56567784hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg381024
hg191024
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723099
Supporting Variants
Samples
Known GenesSMARCC2
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)nssv17239505
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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