A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950040



Internal ID17298914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:53876934..53883133hg38UCSC Ensembl
Outerchr4:54743101..54749300hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg386200
hg196200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996717
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950040
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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