A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5328



Internal ID15550126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:64708002..64753263hg38UCSC Ensembl
Outerchr6:65417895..65463156hg19UCSC Ensembl
Outerchr6:65474616..65519877hg18UCSC Ensembl
Outerchr6:65474616..65519877hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3845262
hg1945262
hg1845262
hg1745262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8256
SamplesNA12156
Known GenesEYS
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)nsv5328
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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