A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050037



Internal ID19139256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:125804576..125853758hg38UCSC Ensembl
Innerchr12:126289122..126338304hg19UCSC Ensembl
Innerchr12:124855075..124904257hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3849183
hg1949183
hg1849183
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712615
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)nsv1050037
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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