A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146966



Internal ID18854869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:61924927..61925260hg38UCSC Ensembl
Outerchr1:62390599..62390932hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998327
SamplesKWB1
Known GenesINADL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146966
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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