A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18006191



Internal ID20573231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9926201..9927800hg38UCSC Ensembl
chr12:10078800..10080399hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6460352
Supporting Variants
Samples
Known GenesCLEC2A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18006191
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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