A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv532n223



Internal ID22803500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217489679..217671460hg38UCSC Ensembl
chr1:217663021..217844802hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38181782
hg19181782
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6326135, nsv6317459
Samples
Known GenesGPATCH2, SPATA17
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv532n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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