A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112566



Internal ID18936486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:233327254..233327954hg38UCSC Ensembl
Outerchr1:233463000..233463700hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3966667
SamplesKWS2
Known GenesKIAA1804
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112566
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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