A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041296



Internal ID19130515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31125097..31242538hg38UCSC Ensembl
Innerchr12:31278031..31395472hg19UCSC Ensembl
Innerchr12:31169298..31286739hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38117442
hg19117442
hg18117442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1419n100
Supporting Variantsnssv3511074
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)nsv1041296
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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