A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278468



Internal ID22321594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:29452371..29458588hg38UCSC Ensembl
Outerchr10:29741300..29747517hg19UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg386218
hg196218
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218347
Supporting Variants
SamplesNA19240
Known GenesSVIL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278468
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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