A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5490546



Internal ID267799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43980007..43980685hg38UCSC Ensembl
chr7:44019606..44020284hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38679
hg19679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16997322
Samples
Known GenesPOLR2J4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5490546
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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