A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17700784



Internal ID124450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:30574374..30833874hg38UCSC Ensembl
chr15:30866577..31126077hg19UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38259501
hg19259501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508888
Supporting Variants
Samples
Known GenesARHGAP11B, GOLGA8H, HERC2P10, LOC100288637, ULK4P1, ULK4P2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17700784
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001095


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