A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6324583



Internal ID20857711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230381991..230382092hg38UCSC Ensembl
chr1:230517737..230517838hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18058596
Samples
Known GenesPGBD5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6324583
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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