A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006107



Internal ID18748638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:235085672..235513932hg38UCSC Ensembl
Innerchr2:235994316..236422576hg19UCSC Ensembl
Innerchr2:235659055..236087315hg18UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38428261
hg19428261
hg18428261
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4191n100
Supporting Variantsnssv3586946
Samples
Known GenesAGAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006107
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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