A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14326478



Internal ID22192976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42826163..42826163hg38UCSC Ensembl
chr6:42793901..42793901hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564590
Supporting Variants
SamplesHG00731
Known GenesGLTSCR1L
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14326478
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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