A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715604



Internal ID139270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81689980..81739980hg38UCSC Ensembl
chr17:79657010..79707010hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3850001
hg1950001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144535
Supporting Variants
Samples
Known GenesHGS, MIR6786, MRPL12, SLC25A10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715604
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.113971


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