A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001084



Internal ID20568124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48664140..48667181hg38UCSC Ensembl
chr12:49057923..49060964hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg383042
hg193042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6459308
Supporting Variants
Samples
Known GenesKANSL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001084
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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