A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261750



Internal ID22184628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:9277560..9288310hg38UCSC Ensembl
Outerchr18:9277558..9288308hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3810751
hg1910751
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211115
Supporting Variants
SamplesHG00731
Known GenesANKRD12
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261750
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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