A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5194



Internal ID15549979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:9699547..9728330hg38UCSC Ensembl
Outerchr6:9699780..9728563hg19UCSC Ensembl
Outerchr6:9807766..9836549hg18UCSC Ensembl
Outerchr6:9807766..9836549hg17UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3810473
hg1910473
hg1810473
hg1710473
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4890
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)nsv5194
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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