A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138715



Internal ID18916762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48334432..48334484hg38UCSC Ensembl
Outerchr19:48837689..48837741hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3970105, nssv3955831
SamplesKWS1, KWS2
Known GenesTMEM143
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138715
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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