A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250339



Internal ID22377507
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253494
SamplesHG00731
Known GenesFGFR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250339
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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