A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202099



Internal ID22351306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:151444620..151472046hg38UCSC Ensembl
Outerchr1:151417096..151444522hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3827427
hg1927427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256361, nssv14256360
SamplesHG00512, HG00514
Known GenesPOGZ
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202099
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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