A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3712593



Internal ID18664188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99382547..99404944hg38UCSC Ensembl
Innerchr12:99776325..99798722hg19UCSC Ensembl
Innerchr12:98300456..98322853hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3822398
hg1922398
hg1822398
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1049617
Supporting Variants
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)nssv3712593
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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