A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176425



Internal ID15880835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:100487230..100542549hg38UCSC Ensembl
Innerchr12:100881008..100936327hg19UCSC Ensembl
Innerchr12:99405139..99460458hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3855320
hg1955320
hg1855320
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559995
Supporting Variants
SamplesNINDS_36
Known GenesNR1H4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176425
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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