A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6361975



Internal ID21019528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57250846..57258196hg38UCSC Ensembl
chr3:57284874..57292224hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg387351
hg197351
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18212275
Samples
Known GenesAPPL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6361975
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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