A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3954



Internal ID15201929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:192561361..192591662hg38UCSC Ensembl
Outerchr1:192530491..192560792hg19UCSC Ensembl
Outerchr1:190797114..190827415hg18UCSC Ensembl
Outerchr1:189262148..189292449hg17UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg389551
hg199551
hg189551
hg179551
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11135
SamplesNA15510
Known GenesRGS1
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)nsv3954
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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