A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18062389



Internal ID20629429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:57100257..57101599hg38UCSC Ensembl
chr1:57565930..57567272hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg381343
hg191343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6315815
Supporting Variants
Samples
Known GenesDAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18062389
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00026


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