A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112797



Internal ID19263447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9103167..9109167hg38UCSC Ensembl
Outerchr21:9942000..9948000hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967297
SamplesKWS2
Known GenesTEKT4P2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112797
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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