A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213285



Internal ID20780325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150204326..150245476hg38UCSC Ensembl
chr5:149583889..149625039hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3841151
hg1941151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6402660
Supporting Variants
Samples
Known GenesCAMK2A, SLC6A7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213285
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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