A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1151258



Internal ID18849819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:69995716..69997817hg38UCSC Ensembl
Outerchr1:70461399..70463500hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382102
hg192102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4003822
SamplesKWB1
Known GenesLRRC7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1151258
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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