A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611709



Internal ID16052432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86701747..87889581hg38UCSC Ensembl
Innerchr8:87713975..88901809hg19UCSC Ensembl
Innerchr8:87783091..88970925hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg381187835
hg191187835
hg181187835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156629
SamplesNINDS_45
Known GenesCNBD1, CNGB3, DCAF4L2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611709
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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