A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216549



Internal ID20783589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:10545723..10821818hg38UCSC Ensembl
chr6:10545956..10822051hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg38276096
hg19276096
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6404362
Supporting Variants
Samples
Known GenesC6orf52, GCNT2, MAK, PAK1IP1, TMEM14B, TMEM14C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216549
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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