A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480375



Internal ID257882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:126477475..126496958hg38UCSC Ensembl
chr7:126117529..126137012hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg3819484
hg1919484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17002554
Samples
Known GenesGRM8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480375
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