A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051639



Internal ID19140858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11328320..11390440hg38UCSC Ensembl
Innerchr12:11481254..11543374hg19UCSC Ensembl
Innerchr12:11372521..11434641hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3862121
hg1962121
hg1862121
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1379n100
Supporting Variantsnssv3708753
Samples
Known GenesPRB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051639
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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