A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611529



Internal ID16398938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:71326400..71338790hg38UCSC Ensembl
Innerchr8:72238635..72251025hg19UCSC Ensembl
Innerchr8:72401189..72413579hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3812391
hg1912391
hg1812391
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1116156
Samples
Known GenesEYA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611529
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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