A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539



Internal ID15550358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:150707299..150741392hg38UCSC Ensembl
Outerchr6:151028435..151062528hg19UCSC Ensembl
Outerchr6:151070128..151104221hg18UCSC Ensembl
Outerchr6:151120549..151154642hg17UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg385931
hg195931
hg185931
hg175931
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2738
SamplesNA18555
Known GenesPLEKHG1
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)nsv5539
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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