A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6316485



Internal ID20849564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233901601..233909800hg38UCSC Ensembl
chr1:234037347..234045546hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg388200
hg198200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202381
Samples
Known GenesSLC35F3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6316485
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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