A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18058544



Internal ID20625584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229452570..229453189hg38UCSC Ensembl
chr1:229588317..229588936hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38620
hg19620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326870
Supporting Variants
Samples
Known GenesNUP133
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18058544
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00031


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