A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv720



Internal ID15205499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:56180926..56213548hg38UCSC Ensembl
Outerchr12:56574710..56607332hg19UCSC Ensembl
Outerchr12:54860977..54893599hg18UCSC Ensembl
Outerchr12:54860977..54893599hg17UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg386618
hg196618
hg186618
hg176618
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5425
SamplesNA19129
Known GenesRNF41, SMARCC2
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)nsv720
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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