A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6086438



Internal ID21995671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7101128..7101128hg38UCSC Ensembl
chr12:7253724..7253724hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17612118
Samples
Known GenesC1RL
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6086438
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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