A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3954248



Internal ID21374318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:8680758..8680853hg38UCSC Ensembl
chr21:9569591..9569686hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15179608
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3954248
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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