A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5205



Internal ID15549991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13492807..13507213hg38UCSC Ensembl
Outerchr6:13493039..13507445hg19UCSC Ensembl
Outerchr6:13601018..13615424hg18UCSC Ensembl
Outerchr6:13601018..13615424hg17UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg387748
hg197748
hg187748
hg177748
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4891, nssv3418, nssv6052
SamplesNA12156, NA12878, NA19129
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)nsv5205
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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