A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280147



Internal ID22134239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:29414462..29423908hg38UCSC Ensembl
Outerchr10:29703391..29712837hg19UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg389447
hg199447
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227719
Supporting Variants
SamplesHG00513
Known GenesPTCHD3P1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280147
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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