A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6327075



Internal ID20860212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182523848..182525408hg38UCSC Ensembl
chr1:182492983..182494543hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381561
hg191561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18054675
Samples
Known GenesRGSL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6327075
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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