A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3986078



Internal ID18866479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10432374..10432426hg38UCSC Ensembl
Outerchr21:11080031..11080083hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1131618
Supporting Variants
SamplesKWS1
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3986078
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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