A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252869



Internal ID22262208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:124495988..124513120hg38UCSC Ensembl
Outerchr10:126184557..126201689hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38892
hg19892
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246788
Supporting Variants
SamplesNA19238
Known GenesLHPP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252869
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