A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2698



Internal ID15547261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:40367345..40401919hg38UCSC Ensembl
Outerchr2:40594485..40629059hg19UCSC Ensembl
Outerchr2:40447989..40482563hg18UCSC Ensembl
Outerchr2:40506136..40540710hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg385450
hg195450
hg185450
hg175450
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3016
SamplesNA18555
Known GenesSLC8A1
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)nsv2698
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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