A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144958



Internal ID18901437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46228886..46229386hg38UCSC Ensembl
Outerchr21:47648800..47649300hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981568
SamplesKWS1
Known GenesMCM3AP-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144958
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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