A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14297526



Internal ID22223259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:187137809..187137809hg38UCSC Ensembl
chr1:187106941..187106941hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561600
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14297526
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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