A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612230



Internal ID16399639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:129611875..129649655hg38UCSC Ensembl
Innerchr8:130624121..130661901hg19UCSC Ensembl
Innerchr8:130693303..130731083hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3837781
hg1937781
hg1837781
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1121156
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612230
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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