A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998722



Internal ID20565762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12261269..12263330hg38UCSC Ensembl
chr12:12414203..12416264hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg382062
hg192062
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6464218
Supporting Variants
Samples
Known GenesLRP6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998722
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00029


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