A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325904



Internal ID22116191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3402417..3402417hg38UCSC Ensembl
chr6:3402651..3402651hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564359
Supporting Variants
SamplesHG00512
Known GenesSLC22A23
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14325904
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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