A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042614



Internal ID19131833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31125097..31261539hg38UCSC Ensembl
Innerchr12:31278031..31414473hg19UCSC Ensembl
Innerchr12:31169298..31305740hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38136443
hg19136443
hg18136443
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1419n100
Supporting Variantsnssv3511647, nssv3514390
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)nsv1042614
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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