A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470241



Internal ID248011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44005044..44005118hg38UCSC Ensembl
chr6:43972781..43972855hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984736
Samples
Known GenesC6orf223
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470241
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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