A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3962507



Internal ID18870730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44661004..44674268hg38UCSC Ensembl
Outerchr21:46080921..46094185hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3813265
hg1913265
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1111232
Supporting Variants
SamplesKWS1
Known GenesKRTAP12-2, TSPEAR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3962507
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