A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133810



Internal ID19277130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12122456..12122518hg38UCSC Ensembl
Outerchr1:12182513..12182575hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969381
SamplesKWS2
Known GenesTNFRSF8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133810
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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