A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136328



Internal ID18922012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48827663..48828163hg38UCSC Ensembl
Outerchr20:47444200..47444700hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989948
SamplesKWS2
Known GenesPREX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136328
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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