A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6468337



Internal ID21125890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23573273..23573766hg38UCSC Ensembl
chr12:23726207..23726700hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38494
hg19494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17998438
Samples
Known GenesSOX5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6468337
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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