A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997822



Internal ID16944088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:129904008..129906607hg38UCSC Ensembl
Outerchr5:129239701..129242300hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950389
Supporting Variants
SamplesBILGI_BIOE
Known GenesCHSY3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997822
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