A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6543



Internal ID15537320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:130644628..130647982hg38UCSC Ensembl
Outerchr12:131129173..131132527hg19UCSC Ensembl
Outerchr12:129695126..129698480hg18UCSC Ensembl
Outerchr12:129654053..129657407hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3811090
hg1911090
hg1811090
hg1711090
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv938
Supporting Variants
SamplesNA12156
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)nssv6543
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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