A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111231



Internal ID18914925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42670314..42670384hg38UCSC Ensembl
Outerchr21:44090424..44090494hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962505
SamplesKWS1
Known GenesPDE9A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111231
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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