A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5477972



Internal ID255536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43375267..43385316hg38UCSC Ensembl
chr7:43414866..43424915hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3810050
hg1910050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16997276
Samples
Known GenesHECW1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5477972
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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