A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17700108



Internal ID123774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40258882..40258940hg38UCSC Ensembl
chr15:40551083..40551141hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145799
Supporting Variants
Samples
Known GenesPAK6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17700108
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.049436


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