A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5209



Internal ID15203309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:16117893..16151799hg38UCSC Ensembl
Outerchr6:16118124..16152030hg19UCSC Ensembl
Outerchr6:16226103..16260009hg18UCSC Ensembl
Outerchr6:16226103..16260009hg17UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg385369
hg195369
hg185369
hg175369
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4892
SamplesNA19129
Known GenesMIR4639, MYLIP
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)nsv5209
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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