A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3708080



Internal ID18659675
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 StatusS
Merged Variantsnsv1047373
Supporting Variants
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)nssv3708080
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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