A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3115549



Internal ID21298815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42491776..42496200hg38UCSC Ensembl
Innerchr2:42718916..42723340hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg384425
hg194425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14104621
Samplessample138
Known GenesKCNG3, MTA3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3115549
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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