A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509381



Internal ID15825407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133246532..133290994hg38UCSC Ensembl
Outerchr10:135060036..135104498hg19UCSC Ensembl
Outerchr10:134910027..134954488hg18UCSC Ensembl
Outerchr10:134948918..134993379hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg383446
hg193446
hg183446
hg173446
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619820
SamplesNA10860
Known GenesADAM8, MIR202, MIR202HG, TUBGCP2
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)nsv509381
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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