A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5214



Internal ID15550001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:17423282..17479543hg38UCSC Ensembl
Outerchr6:17423513..17479774hg19UCSC Ensembl
Outerchr6:17531492..17587753hg18UCSC Ensembl
Outerchr6:17531492..17587753hg17UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3856262
hg1956262
hg1856262
hg1756262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9683, nssv4894
SamplesNA18507, NA19129
Known GenesCAP2
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)nsv5214
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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