A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272066



Internal ID22214853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:156540609..156569752hg38UCSC Ensembl
Outerchr1:156510401..156539544hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3829144
hg1929144
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198649
Supporting Variants
SamplesHG00733
Known GenesIQGAP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272066
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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