A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699374



Internal ID123040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77630281..77745656hg38UCSC Ensembl
chr14:78096624..78211999hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38115376
hg19115376
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497253
Supporting Variants
Samples
Known GenesALKBH1, SLIRP, SNW1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699374
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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