A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264397



Internal ID22202945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:161531957..161656045hg38UCSC Ensembl
Outerchr2:162388467..162512555hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38124089
hg19124089
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203194
Supporting Variants
SamplesHG00732
Known GenesSLC4A10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264397
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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