A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132146



Internal ID18912759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:49930498..49930555hg38UCSC Ensembl
Outerchr8:50843058..50843115hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986840
SamplesKWS1
Known GenesSNTG1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132146
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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