A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1156361



Internal ID15534272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22046701..22197835hg38UCSC Ensembl
Innerchr8:21904212..22055348hg19UCSC Ensembl
Innerchr8:21960158..22111293hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38151135
hg19151137
hg18151136
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610767
Supporting Variants
SamplesNINDS_51
Known GenesBMP1, DMTN, FAM160B2, FGF17, HR, LGI3, NUDT18, REEP4, SFTPC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1156361
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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