A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15746590



Internal ID21392194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130882165..130882744hg38UCSC Ensembl
chr12:131366710..131367289hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38580
hg19580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4431672
Supporting Variants
SamplesSMI034
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15746590
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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