A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000777



Internal ID19190894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:90057541..90062242hg38UCSC Ensembl
Outerchr1:90523099..90527800hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg384702
hg194702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149475
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000777
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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