A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277277



Internal ID22262795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:47256244..47500256hg38UCSC Ensembl
Outerchr10:48239106..48483118hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38244013
hg19244013
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221852
Supporting Variants
SamplesNA19238
Known GenesANXA8, FAM25C, FAM25G, GDF10, GDF2, RBP3, ZNF488
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277277
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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