A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133420



Internal ID19250457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:12657401..12658101hg38UCSC Ensembl
Outerchr18:12657400..12658100hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968617, nssv3994571
SamplesKWS2, KWS1
Known GenesSPIRE1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133420
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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