A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6316698



Internal ID20849779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94878220..94879853hg38UCSC Ensembl
chr1:95343776..95345409hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg381634
hg191634
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203199
Samples
Known GenesSLC44A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6316698
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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