A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3931419



Internal ID21351488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145293013..145299356hg38UCSC Ensembl
chr1:148253362..148254949hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg386344
hg191588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15176955
SamplesHG002
Known GenesLOC101929780, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3931419
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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