A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147280



Internal ID19196460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:127732207..127739608hg38UCSC Ensembl
Outerchr5:127067899..127075300hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg387402
hg197402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000055
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147280
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer