A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948306



Internal ID21368375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16089996..16090188hg38UCSC Ensembl
chr2:16230118..16230310hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15176823
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948306
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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