A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564686



Internal ID22433416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:72941560..72941560hg38UCSC Ensembl
chr6:73651283..73651283hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14329367, nssv14329365, nssv14329366
SamplesHG00731, HG00732, HG00733
Known GenesKCNQ5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3564686
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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