A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997317



Internal ID17290269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149808246..149816546hg38UCSC Ensembl
Outerchr1:149779801..149788100hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg388301
hg198300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952802
Supporting Variants
SamplesBILGI_BIOE
Known GenesHIST2H2BF, HIST2H3D
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997317
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