A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249305



Internal ID21696814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:6414097..6414097hg38UCSC Ensembl
chr11:6435327..6435327hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381014
hg191014
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727255
Supporting Variants
Samples
Known GenesAPBB1
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)nssv17249305
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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