A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3947590



Internal ID21367659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45554573..45554658hg38UCSC Ensembl
chr12:45948356..45948441hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15182244
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3947590
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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