A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253441



Internal ID22185757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:103240416..103296235hg38UCSC Ensembl
Outerchr10:105000173..105055992hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg381220
hg191220
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236671
Supporting Variants
SamplesHG00731
Known GenesINA, LOC729020
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253441
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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