A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152042



Internal ID18855287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:57024785..57024898hg38UCSC Ensembl
Outerchr18:54692016..54692129hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999221
SamplesKWB1
Known GenesWDR7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152042
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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