A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696948



Internal ID120614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:37601824..37606832hg38UCSC Ensembl
chr14:38071029..38076037hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg385009
hg195009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512390
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696948
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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