A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15748287



Internal ID21386229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54053272..54054624hg38UCSC Ensembl
chr12:54447056..54448408hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381353
hg191353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4431786
Supporting Variants
SamplesMDQ010
Known GenesHOXC4
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15748287
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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