A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18061097



Internal ID20628137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45636752..45637255hg38UCSC Ensembl
chr1:46102424..46102927hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6320314
Supporting Variants
Samples
Known GenesGPBP1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18061097
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00034


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