A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948375



Internal ID21368444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:21190673..21190673hg38UCSC Ensembl
chr2:21413545..21413545hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15187091
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948375
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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