A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv472776



Internal ID15225520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94817558..94817558hg38UCSC Ensembl
chr4:95738709..95738709hg19UCSC Ensembl
chr4:95957732..95957732hg18UCSC Ensembl
chr4:96095887..96095887hg17UCSC Ensembl
Cytoband4q22.3
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 Variantsnssv3012560
SamplesNA18555
Known GenesBMPR1B
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)nsv472776
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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