A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17700107



Internal ID123773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40237512..40237572hg38UCSC Ensembl
chr15:40529713..40529773hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511803
Supporting Variants
Samples
Known GenesPAK6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17700107
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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