A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv477387



Internal ID15576813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:65200950..65200950hg38UCSC Ensembl
chr5:64496777..64496777hg19UCSC Ensembl
chr5:64532533..64532533hg18UCSC Ensembl
chr5:64532533..64532533hg17UCSC Ensembl
Cytoband5q12.3
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 Variantsnssv3013259
SamplesNA18517
Known GenesADAMTS6
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)nsv477387
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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