A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152384



Internal ID18852836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49875281..49875371hg38UCSC Ensembl
Outerchr19:50378538..50378628hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996985
SamplesKWB1
Known GenesAKT1S1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152384
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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