A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979453



Internal ID19235499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:143243970..143244029hg38UCSC Ensembl
Outerchr2:144001539..144001598hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1117261
Supporting Variants
SamplesKWS2
Known GenesARHGAP15
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979453
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer