A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263926



Internal ID22202802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241759717..241770787hg38UCSC Ensembl
Outerchr2:242699132..242710202hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3811071
hg1911071
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207828
Supporting Variants
SamplesHG00732
Known GenesD2HGDH
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263926
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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