A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256029



Internal ID22144724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:169183581..169288506hg38UCSC Ensembl
Outerchr1:169152819..169257744hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38104926
hg19104926
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204488
Supporting Variants
SamplesHG00514
Known GenesNME7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256029
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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