A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123523



Internal ID19269167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10474920..10474970hg38UCSC Ensembl
Outerchr21:11037487..11037537hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973290
SamplesKWS2
Known GenesBAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123523
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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