A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18221238



Internal ID20788278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:51603819..53571689hg38UCSC Ensembl
chr7:51671515..53639382hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg381967871
hg191967868
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6607569
Supporting Variants
Samples
Known GenesPOM121L12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18221238
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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