A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991651



Internal ID18891710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44092974..44093048hg38UCSC Ensembl
Outerchr21:45512855..45512929hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139034
Supporting Variants
SamplesKWS2
Known GenesTRAPPC10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991651
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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