A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3523664



Internal ID18475259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:62998611..63983389hg38UCSC Ensembl
Innerchr12:63392391..64377169hg19UCSC Ensembl
Innerchr12:61678658..62663436hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38984779
hg19984779
hg18984779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1046836
Supporting Variants
Samples
Known GenesAVPR1A, DPY19L2, SRGAP1, TMEM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3523664
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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