A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139973



Internal ID19257951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:62798876..62888276hg38UCSC Ensembl
Outerchr9:66454700..66544100hg19UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg3889401
hg1989401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961699, nssv3977850
SamplesKWS2, KWS1
Known GenesPTGER4P2-CDK2AP2P2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139973
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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