A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5854762



Internal ID22629697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8844328..8852057hg38UCSC Ensembl
chr12:8996924..9004653hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387730
hg197730
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17462604
Samples
Known GenesA2ML1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5854762
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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