A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3712597



Internal ID19010878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:105675214..105852804hg38UCSC Ensembl
Innerchr12:106068992..106246582hg19UCSC Ensembl
Innerchr12:104593122..104770712hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38177591
hg19177591
hg18177591
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1040261
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3712597
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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