A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6316924



Internal ID20850006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94816701..94825400hg38UCSC Ensembl
chr1:95282257..95290956hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg388700
hg198700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203198
Samples
Known GenesLINC01057, SLC44A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6316924
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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