A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5828905



Internal ID22603840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220263013..220267510hg38UCSC Ensembl
chr1:220436355..220440852hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384498
hg194498
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17463170
Samples
Known GenesAURKAPS1, RAB3GAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5828905
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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