A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117232



Internal ID18930337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:16225124..16226708hg38UCSC Ensembl
Outerchr2:16406392..16407976hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg381585
hg191585
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1871n106
Supporting Variantsnssv3979423
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117232
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