A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509370



Internal ID15825396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:122690893..122702587hg38UCSC Ensembl
Outerchr10:124450409..124462103hg19UCSC Ensembl
Outerchr10:124440399..124452093hg18UCSC Ensembl
Outerchr10:124440399..124452093hg17UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg383338
hg193338
hg183338
hg173338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619796, nssv623787
SamplesNA18994, NA10860
Known GenesC10orf120
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)nsv509370
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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