A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044042



Internal ID19133261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31125097..31257887hg38UCSC Ensembl
Innerchr12:31278031..31410821hg19UCSC Ensembl
Innerchr12:31169298..31302088hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38132791
hg19132791
hg18132791
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1419n100
Supporting Variantsnssv3513821
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)nsv1044042
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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