A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5490464



Internal ID267721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47574212..48050719hg38UCSC Ensembl
chr7:47613810..48090316hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38476508
hg19476507
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995596
Samples
Known GenesC7orf57, C7orf65, C7orf69, HUS1, LINC00525, LOC101929086, PKD1L1, SUN3, TNS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5490464
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer