A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042499



Internal ID19131718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31125097..31241490hg38UCSC Ensembl
Innerchr12:31278031..31394424hg19UCSC Ensembl
Innerchr12:31169298..31285691hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38116394
hg19116394
hg18116394
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1419n100
Supporting Variantsnssv3515853, nssv3710368, nssv3503977, nssv3522741, nssv3710369
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)nsv1042499
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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