A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126593



Internal ID18930158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:32018997..32019597hg38UCSC Ensembl
Outerchr20:30606800..30607400hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984852
SamplesKWS1
Known GenesCCM2L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126593
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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