A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3947084



Internal ID21367153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244190669..244190719hg38UCSC Ensembl
chr1:244353971..244354021hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15180190
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3947084
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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