A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6399644



Internal ID21057197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:144438446..144446859hg38UCSC Ensembl
chr5:143818009..143826422hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg388414
hg198414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18127884
Samples
Known GenesKCTD16
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6399644
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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