A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950037



Internal ID17298911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:49597984..49658083hg38UCSC Ensembl
Outerchr4:49600001..49660100hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3860100
hg1960100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996714
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950037
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