A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713957



Internal ID137623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62830308..62832042hg38UCSC Ensembl
chr17:60907669..60909403hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381735
hg191735
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525339
Supporting Variants
Samples
Known GenesMIR548W
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713957
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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