A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485869



Internal ID263250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77708588..77708717hg38UCSC Ensembl
chr7:77337905..77338034hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16999112
Samples
Known GenesRSBN1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485869
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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