A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17379960



Internal ID22437830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40258882..40258935hg38UCSC Ensembl
chr15:40551083..40551136hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5930267
Supporting Variants
Samples
Known GenesPAK6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17379960
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1.00


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