A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138165



Internal ID18921851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:104338464..104338515hg38UCSC Ensembl
Outerchr12:104732242..104732293hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3990713
SamplesKWS2
Known GenesTXNRD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138165
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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