A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5831678



Internal ID22606613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157615757..157617716hg38UCSC Ensembl
chr2:158472269..158474228hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg381960
hg191960
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17488219
Samples
Known GenesACVR1C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5831678
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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