A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954596



Internal ID16956783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:62487535..62487703hg38UCSC Ensembl
Outerchr17:60564896..60565064hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001611
SamplesBILGI_BIOE
Known GenesTLK2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954596
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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