A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129616



Internal ID18937918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5084451..5084531hg38UCSC Ensembl
Outerchr19:5084462..5084542hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963891
SamplesKWS1
Known GenesKDM4B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129616
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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