A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv801499



Internal ID15748769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99895704..99896892hg38UCSC Ensembl
Innerchr12:100289482..100290670hg19UCSC Ensembl
Innerchr12:98813613..98814801hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381189
hg191189
hg181189
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559974
Supporting Variants
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv801499
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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