A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5850248



Internal ID22625183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124240827..124241926hg38UCSC Ensembl
chr12:124725373..124726472hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv460n209
Supporting Variantsnssv17453544, nssv17466456
Samples
Known GenesZNF664-FAM101A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5850248
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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