A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145787



Internal ID18848858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:80241380..80241502hg38UCSC Ensembl
Outerchr18:77999263..77999385hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997150
SamplesKWB1
Known GenesPARD6G
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1145787
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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