A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200741



Internal ID20767781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143538101..143762000hg38UCSC Ensembl
chr1:149032763..149256649hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38223900
hg19223887
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325080
Supporting Variants
Samples
Known GenesLOC101929780, NBPF23
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200741
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.02817


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