A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263887



Internal ID22185759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:226461208..226475712hg38UCSC Ensembl
Outerchr2:227325924..227340428hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3814505
hg1914505
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200392
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263887
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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