A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146777



Internal ID19197049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:2314764..2316765hg38UCSC Ensembl
Outerchr7:2354399..2356400hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg382002
hg192002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3995930
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146777
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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