A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997729



Internal ID17290681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:43519999..43524798hg38UCSC Ensembl
Outerchr5:43520101..43524900hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg384800
hg194800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950675
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997729
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