A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043049



Internal ID18785580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99692724..99710499hg38UCSC Ensembl
Innerchr12:100086502..100104277hg19UCSC Ensembl
Innerchr12:98610633..98628408hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3817776
hg1917776
hg1817776
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524862
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)nsv1043049
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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