A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121237



Internal ID19264859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:44047485..44047884hg38UCSC Ensembl
Outerchr20:42676125..42676524hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2255n106
Supporting Variantsnssv3966362, nssv3956066
SamplesKWS2, KWS1
Known GenesTOX2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121237
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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