A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952232



Internal ID16954419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:169701560..169715359hg38UCSC Ensembl
Outerchr1:169670701..169684500hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3813800
hg1913800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998390
SamplesBILGI_BIOE
Known GenesSELL
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952232
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