A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714617



Internal ID138283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75249102..75249230hg38UCSC Ensembl
chr17:73245183..73245311hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517271
Supporting Variants
Samples
Known GenesGGA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714617
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.006088


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