A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493768



Internal ID270934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:56040113..56040836hg38UCSC Ensembl
chr7:56107806..56108529hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16996428
Samples
Known GenesPSPH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493768
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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