A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14290062



Internal ID22193399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110310153..110310153hg38UCSC Ensembl
chr1:110852775..110852775hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561277
Supporting Variants
SamplesHG00731
Known GenesLOC440600
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14290062
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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