A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139033



Internal ID18903872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44092592..44092648hg38UCSC Ensembl
Outerchr21:45512473..45512529hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973805, nssv3986121
SamplesKWS1, KWS2
Known GenesTRAPPC10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139033
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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