A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255203



Internal ID22220583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:61615130..61670336hg38UCSC Ensembl
Outerchr1:62080802..62136008hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3855207
hg1955207
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193548
Supporting Variants
SamplesHG00733
Known GenesMGC34796
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255203
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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