A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576571



Internal ID16363980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:23220751..23299468hg38UCSC Ensembl
Innerchr18:20800715..20879432hg19UCSC Ensembl
Innerchr18:19054713..19133430hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3878718
hg1978718
hg1878718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5873n54
Supporting Variantsnssv878496
Samples
Known GenesCABLES1, TMEM241
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576571
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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