A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6096842



Internal ID22006075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47866066..47866066hg38UCSC Ensembl
chr12:48259849..48259849hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17610611
Samples
Known GenesVDR
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6096842
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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