A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18168683



Internal ID20735723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60598278..60609227hg38UCSC Ensembl
chr8:61510837..61521786hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3810950
hg1910950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6430616
Supporting Variants
Samples
Known GenesRAB2A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18168683
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00023


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