A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050428



Internal ID19139647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:16482914..16524598hg38UCSC Ensembl
Innerchr12:16635848..16677532hg19UCSC Ensembl
Innerchr12:16527115..16568799hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3841685
hg1941685
hg1841685
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3520885
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)nsv1050428
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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