A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6247110



Internal ID22051720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:58227627..58227627hg38UCSC Ensembl
chr10:59987388..59987388hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17841887
Samples
Known GenesIPMK
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6247110
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