A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6249065



Internal ID22053675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51730475..51730475hg38UCSC Ensembl
chr13:52304611..52304611hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17846275
Samples
Known GenesWDFY2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6249065
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