A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17062076



Internal ID21482868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196830121..196830176hg38UCSC Ensembl
chr1:196799251..196799306hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5573900
Supporting Variants
SamplesHG03732
Known GenesCFHR1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17062076
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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