A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265281



Internal ID22186448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241759717..241795273hg38UCSC Ensembl
Outerchr2:242699132..242734688hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3835557
hg1935557
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192838
Supporting Variants
SamplesHG00731
Known GenesD2HGDH, GAL3ST2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265281
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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