A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010123



Internal ID18752654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:18948815..19948012hg38UCSC Ensembl
Innerchr3:18990307..19989504hg19UCSC Ensembl
Innerchr3:18965311..19964508hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38999198
hg19999198
hg18999198
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3593097
Samples
Known GenesEFHB, KCNH8, MIR4791, RAB5A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010123
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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