A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279406



Internal ID22134609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:126044402..126060935hg38UCSC Ensembl
Outerchr10:127732971..127749504hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg3816534
hg1916534
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212214
Supporting Variants
SamplesHG00513
Known GenesADAM12
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279406
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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