A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987302



Internal ID18860399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:209618776..209621076hg38UCSC Ensembl
Outerchr2:210483500..210485800hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg382301
hg192301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132522
Supporting Variants
SamplesKWS1
Known GenesMAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987302
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