A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215555



Internal ID20782595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131091401..131136600hg38UCSC Ensembl
chr6:131412541..131457740hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3845200
hg1945200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6602893
Supporting Variants
Samples
Known GenesAKAP7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215555
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00031


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