A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047491



Internal ID19136710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:58209508..58249436hg38UCSC Ensembl
Innerchr12:58603291..58643219hg19UCSC Ensembl
Innerchr12:56889558..56929486hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3839929
hg1939929
hg1839929
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523607
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)nsv1047491
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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