A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv224n223



Internal ID22803192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67848201..67849600hg38UCSC Ensembl
chr1:68313884..68315283hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6333409, nsv6318261
Samples
Known GenesGNG12-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv224n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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