A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052044



Internal ID19141263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:58828186..58844604hg38UCSC Ensembl
Innerchr12:59221968..59238386hg19UCSC Ensembl
Innerchr12:57508235..57524653hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3816419
hg1916419
hg1816419
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523623
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)nsv1052044
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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