A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048896



Internal ID19138115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:72752278..72984653hg38UCSC Ensembl
Innerchr12:73146058..73378433hg19UCSC Ensembl
Innerchr12:71432325..71664700hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38232376
hg19232376
hg18232376
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712548
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)nsv1048896
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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