A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv477053



Internal ID15229805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19661895..19661895hg38UCSC Ensembl
chrX:19680013..19680013hg19UCSC Ensembl
chrX:19589934..19589934hg18UCSC Ensembl
chrX:19439670..19439670hg17UCSC Ensembl
CytobandXp22.12
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 Variantsnssv3010755
SamplesNA18517
Known GenesSH3KBP1
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)nsv477053
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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