A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953549



Internal ID16955736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:54924270..54927269hg38UCSC Ensembl
Outerchr18:52591501..52594500hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998884
SamplesBILGI_BIOE
Known GenesCCDC68
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953549
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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