A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17708963



Internal ID132629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50280682..50307682hg38UCSC Ensembl
chr16:50314593..50341593hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3827001
hg1927001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144720
Supporting Variants
Samples
Known GenesADCY7, MIR6771
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17708963
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000325


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