A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5862918



Internal ID22637853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4765158..4767481hg38UCSC Ensembl
chr12:4874324..4876647hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg382324
hg192324
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv325n209
Supporting Variantsnssv17466863
Samples
Known GenesGALNT8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5862918
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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