A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6322478



Internal ID20855591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226983045..226988085hg38UCSC Ensembl
chr1:227170746..227175786hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg385041
hg195041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18058182
Samples
Known GenesADCK3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6322478
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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