A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5833347



Internal ID22608282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43864112..43897361hg38UCSC Ensembl
chr2:44091251..44124500hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3833250
hg1933250
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17485532
Samples
Known GenesABCG8, LRPPRC
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5833347
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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