A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559924



Internal ID16000647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98892839..98895498hg38UCSC Ensembl
Innerchr12:99286617..99289276hg19UCSC Ensembl
Innerchr12:97810748..97813407hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382660
hg192660
hg182660
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801303, nssv801302
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559924
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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