A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14454002



Internal ID22248660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148891846..149229929hg38UCSC Ensembl
chr1:144502183..144992641hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38338084
hg19490459
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3547390
Supporting Variants
SamplesHG00733
Known GenesLOC100288142, LOC653513, LOC728875, NBPF8, NBPF9, PDE4DIP, PFN1P2
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14454002
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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