A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111232



Internal ID18927367
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 StatusM
Merged Variants
Supporting Variantsnssv3962507
SamplesKWS1
Known GenesKRTAP12-2, TSPEAR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111232
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer