A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17859376



Internal ID22043019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54685258..54685258hg38UCSC Ensembl
chr6:54550056..54550056hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6245178
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17859376
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