A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227719



Internal ID22370127
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280147
SamplesHG00513
Known GenesPTCHD3P1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227719
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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