A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3418



Internal ID15538146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13498654..13505246hg38UCSC Ensembl
Outerchr6:13498886..13505478hg19UCSC Ensembl
Outerchr6:13606865..13613457hg18UCSC Ensembl
Outerchr6:13606865..13613457hg17UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg386408
hg196408
hg186408
hg176408
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5205
Supporting Variants
SamplesNA12878
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)nssv3418
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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