A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951436



Internal ID17300310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:57280842..57289341hg38UCSC Ensembl
Outerchr8:58193401..58201900hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg388500
hg198500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999289
SamplesBILGI_BIOE
Known GenesLINC00588
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951436
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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