A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138996



Internal ID18908595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10427537..10427598hg38UCSC Ensembl
Outerchr21:11084859..11084920hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973292, nssv3956478
SamplesKWS1, KWS2
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138996
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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