A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17617177



Internal ID21809224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21482028..21482028hg38UCSC Ensembl
chr12:21634962..21634962hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6095679
Supporting Variants
Samples
Known GenesRECQL
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17617177
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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