A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3928n223



Internal ID22806896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73620291..73691233hg38UCSC Ensembl
chr2:73847418..73918360hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3870943
hg1970943
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6345014, nsv6352612, nsv6336483, nsv6344575, nsv6338217
Samples
Known GenesALMS1P, NAT8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv3928n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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