A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5567554



Internal ID21515892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76515456..77046727hg38UCSC Ensembl
chr7:76144773..76676044hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38531272
hg19531272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17148251
SamplesHG00732
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100132832, LOC100133091, POMZP3, UPK3B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5567554
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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