A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509340



Internal ID15476838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1186931..1257850hg38UCSC Ensembl
Outerchr10:1232871..1299901hg19UCSC Ensembl
Outerchr10:1222871..1289901hg18UCSC Ensembl
Outerchr10:1222871..1289901hg17UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg386272
hg196272
hg186272
hg176272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620972, nssv619608
SamplesNA15510, NA10860
Known GenesADARB2
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)nsv509340
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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