A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051476



Internal ID18794007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99583024..99630834hg38UCSC Ensembl
Innerchr12:99976802..100024612hg19UCSC Ensembl
Innerchr12:98500933..98548743hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3847811
hg1947811
hg1847811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1550n100
Supporting Variantsnssv3524859
Samples
Known GenesANKS1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051476
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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