A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517



Internal ID8517316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:144031016..144054486hg38UCSC Ensembl
Outerchr6:144352153..144375623hg19UCSC Ensembl
Outerchr6:144393846..144417316hg18UCSC Ensembl
Outerchr6:144393846..144417316hg17UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg3814116
hg1914116
hg1814116
hg1714116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9434
SamplesNA18517
Known GenesPLAGL1
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)nsv5517
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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