A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485476



Internal ID262865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128748870..128749894hg38UCSC Ensembl
chr7:128388924..128389948hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg381025
hg191025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17002585
Samples
Known GenesCALU
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485476
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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