A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6331508



Internal ID20864672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42967587..43008599hg38UCSC Ensembl
chr1:43433258..43474270hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3841013
hg1941013
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203132
Samples
Known GenesSLC2A1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6331508
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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