A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951085



Internal ID17299959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:50882765..50891164hg38UCSC Ensembl
Outerchr13:51456901..51465300hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg388400
hg198400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998222
SamplesBILGI_BIOE
Known GenesRNASEH2B-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951085
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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