A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152139



Internal ID18855438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40036892..40045493hg38UCSC Ensembl
Outerchr19:40542799..40551400hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg388602
hg198602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996745
SamplesKWB1
Known GenesZNF780B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152139
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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