A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16257502



Internal ID21398186
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4730271
Supporting Variants
SamplesHG00513
Known GenesLOC100288142, LOC653513, LOC728875, NBPF8, NBPF9, PDE4DIP, PFN1P2
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nssv16257502
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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