A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5206



Internal ID15549992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13518453..13526976hg38UCSC Ensembl
Outerchr6:13518685..13527208hg19UCSC Ensembl
Outerchr6:13626664..13635187hg18UCSC Ensembl
Outerchr6:13626664..13635187hg17UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg387004
hg197004
hg187004
hg177004
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2571
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)nsv5206
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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