A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17488902



Internal ID22546820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42271634..42273767hg38UCSC Ensembl
chr21:43691744..43693877hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382134
hg192134
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5878435
Supporting Variants
Samples
Known GenesABCG1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17488902
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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