A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325106



Internal ID22282632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137686880..137688197hg38UCSC Ensembl
chr5:137022569..137023886hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381318
hg191318
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210207
Supporting Variants
SamplesNA19239
Known GenesKLHL3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14325106
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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