A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264702



Internal ID22134640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:188538063..188602910hg38UCSC Ensembl
Outerchr2:189402790..189467637hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3864848
hg1964848
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191518
Supporting Variants
SamplesHG00513
Known GenesGULP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264702
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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