A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141324



Internal ID19287119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:88100..128600hg38UCSC Ensembl
Outerchr19:88100..128600hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3840501
hg1940501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992828
SamplesKWS2
Known GenesOR4F17
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141324
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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