A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330471



Internal ID20863628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224927956..224932703hg38UCSC Ensembl
chr1:225115658..225120405hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg384748
hg194748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18058303
Samples
Known GenesDNAH14
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330471
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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