A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6491627



Internal ID21149180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132279674..132364367hg38UCSC Ensembl
chr12:132856260..132940953hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3884694
hg1984694
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195715
Samples
Known GenesGALNT9, LOC100130238
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6491627
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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