A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256782



Internal ID22190472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:117463081..117496791hg38UCSC Ensembl
Outerchr1:118005703..118039413hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3833711
hg1933711
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200125
Supporting Variants
SamplesHG00731
Known GenesMAN1A2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256782
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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