A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6477498



Internal ID21135051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118075602..118076586hg38UCSC Ensembl
chr12:118513407..118514391hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38985
hg19985
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185416
Samples
Known GenesVSIG10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6477498
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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