A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611083



Internal ID16398492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39498641..39529660hg38UCSC Ensembl
Innerchr8:39356160..39387179hg19UCSC Ensembl
Innerchr8:39475317..39506336hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3831020
hg1931020
hg1831020
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1111253, nssv1111252
Samples
Known GenesADAM3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611083
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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