A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000277



Internal ID18742808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:134827238..135251995hg38UCSC Ensembl
Innerchr3:134546080..134970837hg19UCSC Ensembl
Innerchr3:136028770..136453527hg18UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38424758
hg19424758
hg18424758
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3607147
Samples
Known GenesEPHB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000277
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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