A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611010



Internal ID16398419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39380149..39499982hg38UCSC Ensembl
Innerchr8:39237668..39357501hg19UCSC Ensembl
Innerchr8:39356825..39476658hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38119834
hg19119834
hg18119834
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12102n54
Supporting Variantsnssv1110582, nssv1110587, nssv1110578, nssv1110588, nssv1110592, nssv1110576, nssv1110585, nssv1110586, nssv1110577, nssv1110579, nssv1110591, nssv1110583, nssv1110589, nssv1110590, nssv1110575, nssv1110581, nssv1110580, nssv1110584
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611010
Frequency
Sample Size17421
Observed Gain2
Observed Loss16
Observed Complex0
Frequencyn/a


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