A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3008



Internal ID15200888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:161966354..161998201hg38UCSC Ensembl
Outerchr2:162822864..162854711hg19UCSC Ensembl
Outerchr2:162531110..162562957hg18UCSC Ensembl
Outerchr2:162648371..162680218hg17UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3814125
hg1914125
hg1814125
hg1714125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9581, nssv10248
SamplesNA18507, NA18956
Known GenesDPP4, SLC4A10
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)nsv3008
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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