A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256960



Internal ID22144873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:227964967..227992349hg38UCSC Ensembl
Outerchr1:228152668..228180050hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3827383
hg1927383
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207270
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256960
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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