A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14319948



Internal ID22124565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244718667..244718667hg38UCSC Ensembl
chr1:244881969..244881969hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561684
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14319948
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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