A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146477



Internal ID19196011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40684894..40689395hg38UCSC Ensembl
Outerchr19:41190799..41195300hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg384502
hg194502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3995633
SamplesKWB1
Known GenesNUMBL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146477
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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