A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471102



Internal ID248845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:22103323..22505243hg38UCSC Ensembl
chr7:22142941..22544862hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38401921
hg19401922
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16993873
Samples
Known GenesRAPGEF5, STEAP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471102
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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