A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144836



Internal ID18916469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:59219068..59220268hg38UCSC Ensembl
Outerchr18:56886300..56887500hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981432
SamplesKWS1
Known GenesGRP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144836
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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