A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6464526



Internal ID21122079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53488849..53490197hg38UCSC Ensembl
chr12:53882633..53883981hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381349
hg191349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001461
Samples
Known GenesMAP3K12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6464526
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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