A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv473071



Internal ID15225816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:141842956..141842956hg38UCSC Ensembl
chrX:140930742..140930742hg19UCSC Ensembl
chrX:140758408..140758408hg18UCSC Ensembl
chrX:140656262..140656262hg17UCSC Ensembl
CytobandXq27.2
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 Variantsnssv3016954
SamplesNA19129
Known GenesMAGEC3
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)nsv473071
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer