A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463171



Internal ID21120724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:85261101..85286800hg38UCSC Ensembl
chr12:85654879..85680578hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3825700
hg1925700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186364
Samples
Known GenesALX1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463171
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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