A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6333290



Internal ID20866466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75238022..75280688hg38UCSC Ensembl
chr1:75703707..75746373hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3842667
hg1942667
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204422
Samples
Known GenesSLC44A5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6333290
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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