A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18000369



Internal ID20567409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4487616..4488069hg38UCSC Ensembl
chr12:4596782..4597235hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38454
hg19454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6469442
Supporting Variants
Samples
Known GenesC12orf4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18000369
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00069


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