A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715635



Internal ID139301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81973133..81991133hg38UCSC Ensembl
chr17:79931009..79949009hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3818001
hg1918001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144602
Supporting Variants
Samples
Known GenesASPSCR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715635
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.010809


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