A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998765



Internal ID16945031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:47704435..47709334hg38UCSC Ensembl
Outerchr17:45781801..45786700hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg384900
hg194900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953919
Supporting Variants
SamplesBILGI_BIOE
Known GenesTBKBP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998765
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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