A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041182



Internal ID19130401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:34162014..34701551hg38UCSC Ensembl
Innerchr12:34314949..34854486hg19UCSC Ensembl
Innerchr12:34206216..34745753hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38539538
hg19539538
hg18539538
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1442n100
Supporting Variantsnssv3512150, nssv3506724, nssv3510754, nssv3510674
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)nsv1041182
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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