A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14319134



Internal ID22118773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244263411..244263411hg38UCSC Ensembl
chr1:244426713..244426713hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561809
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14319134
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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