A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278366



Internal ID22184084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207512039..207579178hg38UCSC Ensembl
Outerchr1:207685384..207752523hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3867140
hg1967140
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198587
Supporting Variants
SamplesHG00731
Known GenesCR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278366
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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