A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999287



Internal ID17292239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:57252542..57261741hg38UCSC Ensembl
Outerchr8:58165101..58174300hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg389200
hg199200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951434
Supporting Variants
SamplesBILGI_BIOE
Known GenesLOC286177
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999287
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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