A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141945



Internal ID18918568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78170394..79635820hg38UCSC Ensembl
Outerchr18:75930394..77395820hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381465427
hg191465427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993451
SamplesKWS1
Known GenesATP9B, NFATC1, SALL3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141945
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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