A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6096629



Internal ID22005862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113286428..113286428hg38UCSC Ensembl
chr12:113724233..113724233hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17613528
Samples
Known GenesTPCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6096629
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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