A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5853621



Internal ID22628556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130835703..130836702hg38UCSC Ensembl
chr12:131320248..131321247hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17453486, nssv17460366
Samples
Known GenesSTX2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5853621
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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