A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139035



Internal ID18940100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44502910..44503001hg38UCSC Ensembl
Outerchr21:45922793..45922884hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973032, nssv3986124
SamplesKWS1, KWS2
Known GenesTSPEAR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139035
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