A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1035462



Internal ID19124681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:78049920..78339802hg38UCSC Ensembl
Innerchr12:78443700..78733582hg19UCSC Ensembl
Innerchr12:76967831..77257713hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38289883
hg19289883
hg18289883
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524644
Samples
Known GenesNAV3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1035462
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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