A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6470124



Internal ID21127677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44877801..44888700hg38UCSC Ensembl
chr12:45271584..45282483hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3810900
hg1910900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000370
Samples
Known GenesNELL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6470124
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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