A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480995



Internal ID258490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77310551..77317242hg38UCSC Ensembl
chr7:76939868..76946559hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg386692
hg196692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16998804
Samples
Known GenesGSAP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480995
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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