A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713347



Internal ID137013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45134542..45140726hg38UCSC Ensembl
chr17:43211909..43218093hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg386185
hg196185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532015
Supporting Variants
Samples
Known GenesACBD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713347
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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