A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11023



Internal ID15192999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:151600583..151624082hg38UCSC Ensembl
Outerchr2:152457097..152480596hg19UCSC Ensembl
Outerchr2:152165343..152188842hg18UCSC Ensembl
Outerchr2:152282605..152306104hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3812602
hg1912602
hg1812602
hg1712602
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2976
Supporting Variants
SamplesNA15510
Known GenesNEB
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)nssv11023
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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