A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2927791



Internal ID15317925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104813128..104814624hg38UCSC Ensembl
Innerchr6:105261003..105262499hg19UCSC Ensembl
Innerchr6:105367696..105369192hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg381497
hg191497
hg181497
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514383
Supporting Variants
SamplesNA18499
Known GenesHACE1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2927791
Frequency
Sample Size2366
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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