A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv476330



Internal ID15229082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:123630130..123630130hg38UCSC Ensembl
chrX:122763981..122763981hg19UCSC Ensembl
chrX:122591662..122591662hg18UCSC Ensembl
chrX:122489516..122489516hg17UCSC Ensembl
CytobandXq25
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 Variantsnssv3010882
SamplesNA12878
Known GenesTHOC2
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)nsv476330
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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