A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954441



Internal ID17303315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:181300774..181309873hg38UCSC Ensembl
Outerchr2:182165501..182174600hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg389100
hg199100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003087
SamplesBILGI_BIOE
Known GenesMIR4437
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954441
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