A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996577



Internal ID17289529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:187914313..187920512hg38UCSC Ensembl
Outerchr3:187632101..187638300hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg386200
hg196200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950030
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2996577
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