A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997724



Internal ID17290676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:38893599..38897198hg38UCSC Ensembl
Outerchr5:38893701..38897300hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950670
Supporting Variants
SamplesBILGI_BIOE
Known GenesOSMR
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997724
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