A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3947949



Internal ID21368018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28247131..28247131hg38UCSC Ensembl
chr1:28573642..28573642hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15193121
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3947949
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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