A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450



Internal ID15550261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:117748132..117768117hg38UCSC Ensembl
Outerchr6:118069295..118089280hg19UCSC Ensembl
Outerchr6:118175988..118195973hg18UCSC Ensembl
Outerchr6:118175988..118195973hg17UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg3819986
hg1919986
hg1819986
hg1719986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2612
SamplesNA18555
Known Genes
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)nsv5450
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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