A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998779



Internal ID17291731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:57862340..57866339hg38UCSC Ensembl
Outerchr17:55939701..55943700hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg384000
hg194000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952346
Supporting Variants
SamplesBILGI_BIOE
Known GenesCUEDC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998779
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