A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486414



Internal ID263781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76451779..77032779hg38UCSC Ensembl
chr7:76081096..76662096hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38581001
hg19581001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001108
Samples
Known GenesDTX2, DTX2P1-UPK3BP1-PMS2P11, FDPSP2, LOC100133091, POMZP3, UPK3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486414
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