A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147481



Internal ID18854417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:62686135..62686513hg38UCSC Ensembl
Outerchr1:63151806..63152184hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38379
hg19379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000255
SamplesKWB1
Known GenesDOCK7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147481
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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