A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1131592



Internal ID18912798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:43679853..43679913hg38UCSC Ensembl
Outerchr20:42308493..42308553hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986041
SamplesKWS1
Known GenesMYBL2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1131592
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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