A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561425



Internal ID22430193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169993686..169993686hg38UCSC Ensembl
chr1:169962827..169962827hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14293458, nssv14293462, nssv14293461, nssv14293459, nssv14293460, nssv14293463
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesKIFAP3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561425
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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