A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950005



Internal ID16952192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142910085..142918184hg38UCSC Ensembl
Outerchr8:143991501..143999600hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg388100
hg198100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999344
SamplesBILGI_BIOE
Known GenesCYP11B2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950005
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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