A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136551



Internal ID19285838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:52997268..52997331hg38UCSC Ensembl
Outerchr20:51613807..51613870hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955677, nssv3973256
SamplesKWS2, KWS1
Known GenesTSHZ2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136551
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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