A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047373



Internal ID18789904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6902891..7055754hg38UCSC Ensembl
Innerchr12:7012055..7163058hg19UCSC Ensembl
Innerchr12:6882316..7033319hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38152864
hg19151004
hg18151004
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3708080
Samples
Known GenesATN1, C12orf57, EMG1, ENO2, LPCAT3, LRRC23, MIR141, MIR200C, PHB2, PTPN6, SCARNA12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047373
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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