A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6487263



Internal ID21144816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129871346..130315340hg38UCSC Ensembl
chr12:130355891..130799885hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38443995
hg19443995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187731
Samples
Known GenesFZD10, FZD10-AS1, LOC100190940, TMEM132D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6487263
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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