A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611492



Internal ID16398901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:71301055..71308294hg38UCSC Ensembl
Innerchr8:72213290..72220529hg19UCSC Ensembl
Innerchr8:72375844..72383083hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg387240
hg197240
hg187240
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1115779
Samples
Known GenesEYA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611492
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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