A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132618



Internal ID19282104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177841699..177861899hg38UCSC Ensembl
Outerchr5:177268700..177288900hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3820201
hg1920201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987404
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132618
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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