A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253494



Internal ID22185870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:121577676..121596285hg38UCSC Ensembl
Outerchr10:123337190..123355799hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38638
hg19638
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3250339
Supporting Variants
SamplesHG00731
Known GenesFGFR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253494
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