A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003076



Internal ID69674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105096616..105096667hg38UCSC Ensembl
chr7:104737063..104737114hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38784
hg19784
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560511
Supporting Variants
Samples
Known GenesKMT2E
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003076
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002656


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