A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696243



Internal ID119909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52559510..52564934hg38UCSC Ensembl
chr14:53026228..53031652hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg385425
hg195425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494651
Supporting Variants
Samples
Known GenesGPR137C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696243
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002342


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