A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714822



Internal ID138488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78044189..78046440hg38UCSC Ensembl
chr17:76040270..76042521hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382252
hg192252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525513
Supporting Variants
Samples
Known GenesTNRC6C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714822
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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