A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952352



Internal ID16954539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:62503940..62514939hg38UCSC Ensembl
Outerchr17:60581301..60592300hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3811000
hg1911000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998785
SamplesBILGI_BIOE
Known GenesTLK2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952352
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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