A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983891



Internal ID19233070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:9317133..9317225hg38UCSC Ensembl
Outerchr2:9457262..9457354hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125684
Supporting Variants
SamplesKWS2
Known GenesASAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3983891
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