A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17708003



Internal ID131669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23594015..23607423hg38UCSC Ensembl
chr16:23605336..23618744hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3813409
hg1913409
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521755
Supporting Variants
Samples
Known GenesNDUFAB1, PALB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17708003
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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