A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3939752



Internal ID21359821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105054586..105054694hg38UCSC Ensembl
chr2:105671044..105671152hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15178311
SamplesHG002
Known GenesMRPS9
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3939752
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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