A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18051422



Internal ID20618462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12746992..12803938hg38UCSC Ensembl
chr1:12806940..12864074hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3856947
hg1957135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318631
Supporting Variants
Samples
Known GenesC1orf158, PRAMEF1, PRAMEF12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18051422
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00032


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