A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951112



Internal ID16953299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:22023690..22135287hg38UCSC Ensembl
Outerchr8:21881201..21992800hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38111598
hg19111600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998706
SamplesBILGI_BIOE
Known GenesDMTN, FAM160B2, FGF17, HR, NPM2, NUDT18
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951112
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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