A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039200



Internal ID19128419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31125097..31258820hg38UCSC Ensembl
Innerchr12:31278031..31411754hg19UCSC Ensembl
Innerchr12:31169298..31303021hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38133724
hg19133724
hg18133724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1419n100
Supporting Variantsnssv3711248, nssv3511640, nssv3509585
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)nsv1039200
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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