A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144848



Internal ID18914216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:812300..813000hg38UCSC Ensembl
Outerchr19:812300..813000hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981446
SamplesKWS1
Known GenesLPPR3, PTBP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144848
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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