A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953618



Internal ID16955805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54739455..54747348hg38UCSC Ensembl
Outerchr19:55250901..55258800hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg387894
hg197900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999884
SamplesBILGI_BIOE
Known GenesKIR2DL3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953618
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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