A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113131



Internal ID19271922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:67227954..67228084hg38UCSC Ensembl
Outerchr1:67693637..67693767hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968027
SamplesKWS2
Known GenesIL23R
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113131
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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