A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10248



Internal ID15195864
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
hg387650
hg197650
hg187650
hg177650
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3008
Supporting Variants
SamplesNA18956
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)nssv10248
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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