A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18144809



Internal ID20711849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57187553..57188045hg38UCSC Ensembl
chr6:57052351..57052843hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg38493
hg19493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6405374
Supporting Variants
Samples
Known GenesRAB23
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18144809
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00067


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