A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147519



Internal ID19197042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:128295007..128299508hg38UCSC Ensembl
Outerchr5:127630699..127635200hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg384502
hg194502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000293
SamplesKWB1
Known GenesFBN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147519
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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