A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054978



Internal ID19144197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:17768135..17819616hg38UCSC Ensembl
Innerchr12:17921069..17972550hg19UCSC Ensembl
Innerchr12:17812336..17863817hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3851482
hg1951482
hg1851482
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3517997
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)nsv1054978
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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