A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1987



Internal ID15541270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:22423964..22433113hg38UCSC Ensembl
Outerchr12:22576898..22586047hg19UCSC Ensembl
Outerchr12:22468165..22477314hg18UCSC Ensembl
Outerchr12:22468165..22477314hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg389150
hg199150
hg189150
hg179150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv640
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)nssv1987
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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