A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118621



Internal ID19266331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55430333..55433133hg38UCSC Ensembl
Outerchr19:55941700..55944500hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382801
hg192801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959135
SamplesKWS1
Known GenesSHISA7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118621
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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