A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950092



Internal ID17298966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:76516776..76530875hg38UCSC Ensembl
Outerchr5:75812601..75826700hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3814100
hg1914100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997781
SamplesBILGI_BIOE
Known GenesIQGAP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950092
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