A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6470549



Internal ID21128102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:61804819..61807927hg38UCSC Ensembl
chr12:62198600..62201708hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg383109
hg193109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18002385
Samples
Known GenesFAM19A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6470549
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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