A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148300



Internal ID18849222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:45681055..45681449hg38UCSC Ensembl
Outerchr18:43261020..43261414hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38395
hg19395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000333
SamplesKWB1
Known GenesSLC14A2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148300
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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