A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238965



Internal ID21686474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105096616..105096616hg38UCSC Ensembl
chr7:104737063..104737063hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38773
hg19773
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724751
Supporting Variants
Samples
Known GenesKMT2E
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)nssv17238965
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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