A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112803



Internal ID18904484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42653390..42654190hg38UCSC Ensembl
Outerchr21:44073500..44074300hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969472, nssv3981720
SamplesKWS2, KWS1
Known GenesPDE9A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112803
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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