A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950067



Internal ID17298941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:61240674..61245273hg38UCSC Ensembl
Outerchr5:60536501..60541100hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg384600
hg194600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997756
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950067
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