A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3973769



Internal ID18897009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10448621..10448679hg38UCSC Ensembl
Outerchr21:11063778..11063836hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1114259
Supporting Variants
SamplesKWS2
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3973769
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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