A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253005



Internal ID22183144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:132593932..132628054hg38UCSC Ensembl
Outerchr10:134407436..134441558hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg381561
hg191561
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239797
Supporting Variants
SamplesHG00514
Known GenesINPP5A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253005
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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