A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051335



Internal ID19140554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:34311522..34701551hg38UCSC Ensembl
Innerchr12:34464457..34854486hg19UCSC Ensembl
Innerchr12:34355724..34745753hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38390030
hg19390030
hg18390030
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3522773, nssv3522772, nssv3522774
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)nsv1051335
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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