A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503



Internal ID15550319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:140190223..140235046hg38UCSC Ensembl
Outerchr6:140511360..140556183hg19UCSC Ensembl
Outerchr6:140553053..140597876hg18UCSC Ensembl
Outerchr6:140553053..140597876hg17UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3844824
hg1944824
hg1844824
hg1744824
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8304
SamplesNA12156
Known GenesMIR3668
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)nsv5503
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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