A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1148n209



Internal ID22827223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73625838..73691122hg38UCSC Ensembl
chr2:73852965..73918249hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3865285
hg1965285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5870941, nsv5875642
Samples
Known GenesALMS1P, NAT8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)dgv1148n209
Frequency
Sample Size914
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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