A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133501



Internal ID18934954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:20362556..20369256hg38UCSC Ensembl
Outerchr20:20343200..20349900hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg386701
hg196701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969063
SamplesKWS2
Known GenesINSM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133501
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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