A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121264



Internal ID19256092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:126640079..126640406hg38UCSC Ensembl
Outerchr3:126358922..126359249hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2592n106
Supporting Variantsnssv3990267, nssv3966767
SamplesKWS2, KWS1
Known GenesTXNRD3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121264
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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