A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18004068



Internal ID20571108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76065083..76065536hg38UCSC Ensembl
chr12:76458863..76459316hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38454
hg19454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6462166
Supporting Variants
Samples
Known GenesNAP1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18004068
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00379


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