A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123030



Internal ID19253460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:117358812..117359136hg38UCSC Ensembl
Outerchr5:116694508..116694832hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3159n106
Supporting Variantsnssv3971630
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123030
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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