A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993117



Internal ID19232913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:42662297..42670897hg38UCSC Ensembl
Outerchr9:44339100..44347700hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg388601
hg198601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141612
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993117
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