A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612375



Internal ID16399784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136670241..136840687hg38UCSC Ensembl
Innerchr8:137682484..137852930hg19UCSC Ensembl
Innerchr8:137751666..137922112hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38170447
hg19170447
hg18170447
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12343n54
Supporting Variantsnssv1122212, nssv1122211, nssv1122213
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612375
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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