A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14331167



Internal ID22263407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149626335..149628354hg38UCSC Ensembl
chr6:149947471..149949490hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg382020
hg192020
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193437
Supporting Variants
SamplesNA19238
Known GenesKATNA1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14331167
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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