A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1816



Internal ID15541099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246800490..246821050hg38UCSC Ensembl
Outerchr1:246963792..246984352hg19UCSC Ensembl
Outerchr1:245030415..245050975hg18UCSC Ensembl
Outerchr1:243289833..243310393hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg389612
hg199612
hg189612
hg179612
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5265
Supporting Variants
SamplesNA18555
Known Genes
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)nssv1816
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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