A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133423



Internal ID19273651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:26548136..26549136hg38UCSC Ensembl
Outerchr18:24128100..24129100hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967855
SamplesKWS2
Known GenesKCTD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133423
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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