A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4913



Internal ID15196248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:47456091..47460596hg38UCSC Ensembl
Outerchr6:47423827..47428332hg19UCSC Ensembl
Outerchr6:47531786..47536291hg18UCSC Ensembl
Outerchr6:47531786..47536291hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg386094
hg196094
hg186094
hg176094
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5290
Supporting Variants
SamplesNA19129
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)nssv4913
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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