A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046836



Internal ID18789367
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 StatusM
Merged Variants
Supporting Variantsnssv3523664
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)nsv1046836
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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