A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704830



Internal ID128496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4756304..4759824hg38UCSC Ensembl
chr16:4806305..4809825hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383521
hg193521
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529810
Supporting Variants
Samples
Known GenesZNF500
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704830
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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