A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3504154



Internal ID18455749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6876316..6994911hg38UCSC Ensembl
Innerchr12:6985480..7103003hg19UCSC Ensembl
Innerchr12:6855741..6973264hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38118596
hg19117524
hg18117524
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1035811
Supporting Variants
Samples
Known GenesATN1, C12orf57, DSTNP2, EMG1, ENO2, LPCAT3, LRRC23, MIR141, MIR200C, PHB2, PTPN6, RPL13P5, SCARNA12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3504154
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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