A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950128



Internal ID17299002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:123085406..123095705hg38UCSC Ensembl
Outerchr5:122421101..122431400hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3810300
hg1910300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997817
SamplesBILGI_BIOE
Known GenesPRDM6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950128
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