A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144478



Internal ID19268594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:126640129..126640408hg38UCSC Ensembl
Outerchr3:126358972..126359251hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2592n106
Supporting Variantsnssv3995283
SamplesKWS1
Known GenesTXNRD3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144478
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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