A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5833567



Internal ID22608502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43782228..43839287hg38UCSC Ensembl
chr2:44009367..44066426hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3857060
hg1957060
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17485520
Samples
Known GenesABCG5, ABCG8, DYNC2LI1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5833567
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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