A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998783



Internal ID16945049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:61377240..61417939hg38UCSC Ensembl
Outerchr17:59454601..59495300hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3840700
hg1940700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952350
Supporting Variants
SamplesBILGI_BIOE
Known GenesBCAS3, C17orf82, TBX2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998783
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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