A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6351992



Internal ID21009545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71472658..71478463hg38UCSC Ensembl
chr2:71699788..71705593hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg385806
hg195806
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18207023
Samples
Known GenesDYSF
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6351992
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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