A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3928528



Internal ID21348597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149498653..149498653hg38UCSC Ensembl
chr1:148279563..148279563hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg381576
hg191576
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15185168
SamplesHG002
Known GenesLOC101929780, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3928528
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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