A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv479611



Internal ID15232351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144002378..144002378hg38UCSC Ensembl
chr2:144759945..144759945hg19UCSC Ensembl
chr2:144476415..144476415hg18UCSC Ensembl
chr2:144593677..144593677hg17UCSC Ensembl
Cytoband2q22.2
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 Variantsnssv3012993
Samples
Known GenesGTDC1
MethodSequencing
Analysis
PlatformAgilent Custom Human 244K CGH Array
CommentsOEA contig. The coordinate provided is from the mappable end of a contig assembled from multiple read pairs, and indicates the genomic vicinity of a novel sequence insertion.
ReferenceKidd_et_al_2010
Pubmed ID20440878
Accession Number(s)nsv479611
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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