A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138994



Internal ID18913207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10453454..10453510hg38UCSC Ensembl
Outerchr21:11058947..11059003hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991607
SamplesKWS2
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138994
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