A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988673



Internal ID19235202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10475692..10476256hg38UCSC Ensembl
Outerchr21:11036201..11036765hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38565
hg19565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1135121
Supporting Variants
SamplesKWS2
Known GenesBAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988673
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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