A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493388



Internal ID270572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:40848537..40848587hg38UCSC Ensembl
chr7:40888136..40888186hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16994783
Samples
Known GenesC7orf10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493388
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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