A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1103



Internal ID15544679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:90873361..90906655hg38UCSC Ensembl
Outerchr12:91267138..91300432hg19UCSC Ensembl
Outerchr12:89791269..89824563hg18UCSC Ensembl
Outerchr12:89769606..89802900hg17UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg387696
hg197696
hg187696
hg177696
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv814
Supporting Variants
SamplesNA19240
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)nssv1103
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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