A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460283



Internal ID238273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6798700..7108242hg38UCSC Ensembl
chr7:6838331..7147873hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38309543
hg19309543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16992288
Samples
Known GenesCCZ1B, LOC100131257, RSPH10B, RSPH10B2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460283
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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