A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6239528



Internal ID22044138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104191595..104191595hg38UCSC Ensembl
chr7:103832043..103832043hg19UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17838729
Samples
Known GenesORC5
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6239528
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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