A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114



Internal ID15201005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:202719587..202753716hg38UCSC Ensembl
Outerchr2:203584310..203618439hg19UCSC Ensembl
Outerchr2:203292555..203326684hg18UCSC Ensembl
Outerchr2:203409816..203443945hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385898
hg195898
hg185898
hg175898
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3046
SamplesNA18555
Known GenesFAM117B
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)nsv3114
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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