A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219137



Internal ID22364254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:120461053..120482684hg38UCSC Ensembl
Outerchr10:122220565..122242196hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg3821632
hg1921632
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279021, nssv14279024, nssv14279022, nssv14279026, nssv14279025, nssv14279023, nssv14279018, nssv14279019, nssv14279020
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPPAPDC1A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219137
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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