A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6471688



Internal ID21129241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22651159..22651479hg38UCSC Ensembl
chr12:22804093..22804413hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17998356
Samples
Known GenesETNK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6471688
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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