A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040751



Internal ID18783282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99576473..99720643hg38UCSC Ensembl
Innerchr12:99970251..100114421hg19UCSC Ensembl
Innerchr12:98494382..98638552hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38144171
hg19144171
hg18144171
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1549n100
Supporting Variantsnssv3524856
Samples
Known GenesANKS1B, FAM71C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040751
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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