A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5261



Internal ID15550053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:36786768..36831048hg38UCSC Ensembl
Outerchr6:36754545..36798824hg19UCSC Ensembl
Outerchr6:36862523..36906802hg18UCSC Ensembl
Outerchr6:36862523..36906802hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3844281
hg1944280
hg1844280
hg1744280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2586
SamplesNA18555
Known GenesCPNE5
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)nsv5261
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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