A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988195



Internal ID19206667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:204163918..204164018hg38UCSC Ensembl
Outerchr2:205028641..205028741hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133284
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988195
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