A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707676



Internal ID131342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30387237..30390876hg38UCSC Ensembl
chr16:30398558..30402197hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383640
hg193640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5518051
Supporting Variants
Samples
Known GenesZNF48
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707676
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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