A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv299



Internal ID15200868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3476928..3512705hg38UCSC Ensembl
Outerchr1:3393492..3429269hg19UCSC Ensembl
Outerchr1:3383352..3419129hg18UCSC Ensembl
Outerchr1:3416649..3452426hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg385428
hg195428
hg185428
hg175428
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9111, nssv4519, nssv4678
SamplesNA12156, NA12878, NA19129
Known GenesARHGEF16, MEGF6
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv299
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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