A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999313



Internal ID17292265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:100950773..100953272hg38UCSC Ensembl
Outerchr8:101963001..101965500hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951460
Supporting Variants
SamplesBILGI_BIOE
Known GenesYWHAZ
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999313
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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