A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265521



Internal ID22120868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:138437070..138532675hg38UCSC Ensembl
Outerchr2:139194640..139290245hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3895606
hg1995606
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208017
Supporting Variants
SamplesHG00512
Known GenesSPOPL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265521
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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