A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2950



Internal ID15541602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:21217234..21227178hg38UCSC Ensembl
Outerchr16:21228555..21238499hg19UCSC Ensembl
Outerchr16:21136056..21146000hg18UCSC Ensembl
Outerchr16:21136056..21146000hg17UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg385856
hg195856
hg185856
hg175856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1762
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)nssv2950
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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