A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044694



Internal ID19133913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63352289..63527051hg38UCSC Ensembl
Innerchr12:63746069..63920831hg19UCSC Ensembl
Innerchr12:62032336..62207098hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38174763
hg19174763
hg18174763
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523666
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)nsv1044694
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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