A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6461949



Internal ID21119502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48807609..48841182hg38UCSC Ensembl
chr12:49201392..49234965hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3833574
hg1933574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001093
Samples
Known GenesCACNB3, DDX23
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6461949
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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