A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713091



Internal ID136757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40226342..40232137hg38UCSC Ensembl
chr17:38382594..38388389hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg385796
hg195796
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145321
Supporting Variants
Samples
Known GenesWIPF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713091
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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