A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714708



Internal ID138374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76292180..76292486hg38UCSC Ensembl
chr17:74288261..74288567hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523381
Supporting Variants
Samples
Known GenesQRICH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714708
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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