A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713525



Internal ID137191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47897980..47923980hg38UCSC Ensembl
chr17:45975346..46001346hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3826001
hg1926001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145130
Supporting Variants
Samples
Known GenesLOC100506325, SP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713525
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000319


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