A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256540



Internal ID22190180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:17347749..17359357hg38UCSC Ensembl
Outerchr1:17674244..17685852hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3811609
hg1911609
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194367
Supporting Variants
SamplesHG00731
Known GenesPADI4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256540
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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