A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18217963



Internal ID20785003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55284413..55367908hg38UCSC Ensembl
chr6:55149211..55232706hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3883496
hg1983496
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6409480
Supporting Variants
Samples
Known GenesGFRAL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18217963
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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