A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv473231



Internal ID15572661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:124081518..124081518hg38UCSC Ensembl
chr10:125841034..125841034hg19UCSC Ensembl
chr10:125831024..125831024hg18UCSC Ensembl
chr10:125831024..125831024hg17UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3011814
SamplesNA19129
Known GenesCHST15
MethodSequencing
AnalysisSearch fosmid ESPs as described in Tuzun et al (2005)
PlatformAgilent Custom Human 244K CGH Array
CommentsOEA singleton. The coordinate provided is from the mappable member of a fosmid end sequence pair, and indicates the genomic vicinity of a novel sequence insertion
ReferenceKidd_et_al_2010
Pubmed ID20440878
Accession Number(s)nsv473231
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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