A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715707



Internal ID139373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82592912..83057869hg38UCSC Ensembl
chr17:80550788..81015745hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38464958
hg19464958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144384
Supporting Variants
Samples
Known GenesB3GNTL1, FN3K, FN3KRP, FOXK2, RAB40B, TBCD, WDR45B, ZNF750
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715707
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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