A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144811



Internal ID18932413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:60992139..60994139hg38UCSC Ensembl
Outerchr17:59069500..59071500hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981406
SamplesKWS1
Known GenesBCAS3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144811
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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