A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116334



Internal ID18935711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:45004717..45004785hg38UCSC Ensembl
Outerchr19:45507975..45508043hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955458
SamplesKWS1
Known GenesRELB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116334
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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