A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17251576



Internal ID21699085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211756923..211756923hg38UCSC Ensembl
chr1:211930265..211930265hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717875
Supporting Variants
Samples
Known GenesLPGAT1
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)nssv17251576
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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