A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961812



Internal ID22736754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29246303..29246392hg38UCSC Ensembl
chr22:29642292..29642381hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407040
Samples
Known GenesEMID1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961812
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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