A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618081



Internal ID15817236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:83209021..83224798hg38UCSC Ensembl
Outerchr10:84968777..84984554hg19UCSC Ensembl
Outerchr10:84958757..84974534hg18UCSC Ensembl
Outerchr10:84958757..84974534hg17UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg385902
hg195902
hg185902
hg175902
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509360
Supporting Variants
SamplesCHM
Known Genes
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv618081
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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