A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5848700



Internal ID22623635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128294016..128295156hg38UCSC Ensembl
chr12:128778561..128779701hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381141
hg191141
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17460977, nssv17453627
Samples
Known GenesMIR3612, TMEM132C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5848700
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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