A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5883218



Internal ID22658196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54402521..54884697hg38UCSC Ensembl
chr1:54868194..55350370hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38482177
hg19482177
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382032
Samples
Known GenesACOT11, C1orf177, DHCR24, FAM151A, MROH7, MROH7-TTC4, PARS2, SSBP3, TTC22, TTC4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5883218
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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