A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3947374



Internal ID21367443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149327060..149327300hg38UCSC Ensembl
chr5:148706623..148706863hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15197191
SamplesHG002
Known GenesAFAP1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3947374
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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