A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6460229



Internal ID21117782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9860001..9861000hg38UCSC Ensembl
chr12:10012600..10013599hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18006146
Samples
Known GenesCLEC2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6460229
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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