A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134806



Internal ID19250978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:51230177..51230238hg38UCSC Ensembl
Outerchr19:51733433..51733494hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972694
SamplesKWS2
Known GenesCD33
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134806
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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