A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1989



Internal ID15541272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:28064952..28076161hg38UCSC Ensembl
Outerchr12:28217885..28229094hg19UCSC Ensembl
Outerchr12:28109152..28120361hg18UCSC Ensembl
Outerchr12:28109152..28120361hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg388246
hg198246
hg188246
hg178246
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv652
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)nssv1989
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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