A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564359



Internal ID22433090
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14325907, nssv14325906, nssv14325910, nssv14325909, nssv14325905, nssv14325908, nssv14325904
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00513, HG00514
Known GenesSLC22A23
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3564359
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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