A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486320



Internal ID263689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77684818..77692591hg38UCSC Ensembl
chr7:77314135..77321908hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg387774
hg197774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16999107
Samples
Known GenesRSBN1L-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486320
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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