A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4004930



Internal ID22066561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:71303076..71304364hg38UCSC Ensembl
Outerchr8:71300130..71307628hg38UCSC Ensembl
Innerchr8:72215311..72216599hg19UCSC Ensembl
Outerchr8:72212365..72219863hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg387499
hg197499
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154366
Supporting Variants
Samples
Known GenesEYA1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4004930
Frequency
Sample Size131
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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