A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317258



Internal ID20850342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230364998..230365295hg38UCSC Ensembl
chr1:230500744..230501041hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18058594
Samples
Known GenesPGBD5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317258
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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