A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18058250



Internal ID20625291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224091601..224098000hg38UCSC Ensembl
chr1:224279303..224285702hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg386400
hg196400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330218
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18058250
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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