A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6319421



Internal ID20852515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203488801..203494203hg38UCSC Ensembl
chr1:203457929..203463331hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg385403
hg195403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18056728
Samples
Known GenesOPTC, PRELP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6319421
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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