A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473735



Internal ID21131288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29284557..29295686hg38UCSC Ensembl
chr12:29437490..29448619hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3811130
hg1911130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17998570
Samples
Known GenesFAR2, LOC100506606
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473735
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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