A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10260



Internal ID15542538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:197647990..197680539hg38UCSC Ensembl
Outerchr2:198512714..198545263hg19UCSC Ensembl
Outerchr2:198220959..198253508hg18UCSC Ensembl
Outerchr2:198338220..198370769hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg386949
hg196949
hg186949
hg176949
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3098
Supporting Variants
SamplesNA18956
Known GenesRFTN2
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)nssv10260
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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