A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16257347



Internal ID21398495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120324178..120664533hg38UCSC Ensembl
chr1:144503281..145039060hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38340356
hg19535780
Variant TypeOTHER inversion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4730183
Supporting Variants
SamplesHG00514
Known GenesLOC100288142, LOC653513, LOC728875, NBPF8, NBPF9, PDE4DIP, PFN1P2
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nssv16257347
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer