A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471833



Internal ID15224574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172926899..172926899hg38UCSC Ensembl
chr2:173791627..173791627hg19UCSC Ensembl
chr2:173499873..173499873hg18UCSC Ensembl
chr2:173617134..173617134hg17UCSC Ensembl
Cytoband2q31.1
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 Variantsnssv3016160
SamplesNA18555
Known GenesRAPGEF4
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)nsv471833
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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