A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16257357



Internal ID21398490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110095092..110276394hg38UCSC Ensembl
chr2:110852669..111033971hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38181303
hg19181303
Variant TypeOTHER inversion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4730141
Supporting Variants
SamplesHG00514
Known GenesLINC00116, LOC100507334, MALL, NPHP1
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nssv16257357
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