A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3013923



Internal ID15217217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:20233351..20233351hg38UCSC Ensembl
chrX:20251469..20251469hg19UCSC Ensembl
chrX:20161390..20161390hg18UCSC Ensembl
chrX:20011126..20011126hg17UCSC 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 Flag1
Merged StatusS
Merged Variantsnsv478641
Supporting Variants
SamplesNA18507
Known GenesRPS6KA3
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)nssv3013923
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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