A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16996039



Internal ID64809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31646880..31886846hg38UCSC Ensembl
chr7:31686494..31926459hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38239967
hg19239966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492183
Supporting Variants
Samples
Known GenesCCDC129, PDE1C, PPP1R17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16996039
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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