A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469074



Internal ID21126627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42551960..42556016hg38UCSC Ensembl
chr12:42945762..42949818hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg384057
hg194057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001160
Samples
Known GenesPRICKLE1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469074
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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