A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18058433



Internal ID20625473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220086002..220088313hg38UCSC Ensembl
chr1:220259344..220261655hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382312
hg192312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330793
Supporting Variants
Samples
Known GenesBPNT1, RNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18058433
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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