A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133438



Internal ID18902858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3224502..3225802hg38UCSC Ensembl
Outerchr19:3224500..3225800hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969389, nssv3981116
SamplesKWS2, KWS1
Known GenesCELF5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133438
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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