A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609713



Internal ID16397122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3029688..3033287hg38UCSC Ensembl
Innerchr8:2887210..2890809hg19UCSC Ensembl
Innerchr8:2874617..2878216hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg383600
hg193600
hg183600
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11855n54
Supporting Variantsnssv1104041, nssv1104032, nssv1104035, nssv1104040, nssv1104033, nssv1104039, nssv1104038, nssv1104037, nssv1104036, nssv1104034
Samples
Known GenesCSMD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609713
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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