A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001055



Internal ID20568095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48068922..48070993hg38UCSC Ensembl
chr12:48462705..48464776hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg382072
hg192072
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6470864
Supporting Variants
Samples
Known GenesSENP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001055
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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