A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004615



Internal ID18747146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130720375..131291209hg38UCSC Ensembl
Innerchr2:131477948..132048782hg19UCSC Ensembl
Innerchr2:131194418..131765252hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38570835
hg19570835
hg18570835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4074n100
Supporting Variantsnssv3729234
Samples
Known GenesAMER3, ARHGEF4, FAM168B, GPR148, LOC440910, PLEKHB2, POTEE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004615
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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