A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6351384



Internal ID21008937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:129405746..130030304hg38UCSC Ensembl
chr2:130163319..130787877hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38624559
hg19624559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204040
Samples
Known GenesFAR2P1, LOC389033, RAB6C, RAB6C-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6351384
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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