A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135839



Internal ID19267766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:56261771..56263790hg38UCSC Ensembl
Outerchr18:53929002..53931021hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg382020
hg192020
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989430
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135839
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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