A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470619



Internal ID248374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:127687723..127694037hg38UCSC Ensembl
chr6:128008868..128015182hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg386315
hg196315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969088
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470619
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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