A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14329365



Internal ID22189974
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564686
Supporting Variants
SamplesHG00731
Known GenesKCNQ5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14329365
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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