A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14324109



Internal ID22192409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180797843..180797843hg38UCSC Ensembl
chr5:180224843..180224843hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564159
Supporting Variants
SamplesHG00731
Known GenesMGAT1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14324109
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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