A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003475



Internal ID18746006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:101286394..101401186hg38UCSC Ensembl
Innerchr3:101005238..101120030hg19UCSC Ensembl
Innerchr3:102487928..102602720hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38114793
hg19114793
hg18114793
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3604371
Samples
Known GenesIMPG2, SENP7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003475
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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