A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv476842



Internal ID15229594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44747984..44747984hg38UCSC Ensembl
chr1:45213656..45213656hg19UCSC Ensembl
chr1:44986243..44986243hg18UCSC Ensembl
chr1:44882749..44882749hg17UCSC Ensembl
Cytoband1p34.1
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 Variantsnssv3019939
SamplesNA12878
Known GenesKIF2C
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)nsv476842
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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