A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252863



Internal ID22196133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:124466365..124482334hg38UCSC Ensembl
Outerchr10:126154934..126170903hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg381405
hg191405
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232550
Supporting Variants
SamplesHG00731
Known GenesLHPP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252863
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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