A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6336905



Internal ID20994458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54499179..54505710hg38UCSC Ensembl
chr2:54726316..54732847hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg386532
hg196532
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209919
Samples
Known GenesSPTBN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6336905
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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