A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6000691



Internal ID21910034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130513330..130513385hg38UCSC Ensembl
chr7:130153171..130153226hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17570294
Samples
Known GenesCOPG2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6000691
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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