A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6486090



Internal ID21143643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31496428..32268696hg38UCSC Ensembl
chr13:32070565..32842833hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38772269
hg19772269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180330
Samples
Known GenesEEF1DP3, FRY, FRY-AS1, RXFP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6486090
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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