A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611395



Internal ID16052118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:55799154..55961458hg38UCSC Ensembl
Innerchr8:56711713..56874017hg19UCSC Ensembl
Innerchr8:56874267..57036571hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38162305
hg19162305
hg18162305
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12173n54
Supporting Variantsnssv1156839
SamplesNINDS_186
Known GenesLYN, TGS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611395
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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