A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18129593



Internal ID20696633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:169925638..169948530hg38UCSC Ensembl
chr5:169352642..169375534hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3822893
hg1922893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6414301
Supporting Variants
Samples
Known GenesDOCK2, FAM196B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18129593
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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