A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467072



Internal ID244894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7473481..7561377hg38UCSC Ensembl
chr7:7513112..7601008hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3887897
hg1987897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735628
Samples
Known GenesCOL28A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467072
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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