A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042282



Internal ID19131501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31125097..31259735hg38UCSC Ensembl
Innerchr12:31278031..31412669hg19UCSC Ensembl
Innerchr12:31169298..31303936hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38134639
hg19134639
hg18134639
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1419n100
Supporting Variantsnssv3522340, nssv3505374
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)nsv1042282
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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