A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257396



Internal ID22221341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109022984..109037022hg38UCSC Ensembl
Outerchr1:109565606..109579644hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3814039
hg1914039
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198154
Supporting Variants
SamplesHG00733
Known GenesWDR47
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257396
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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