A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467



Internal ID15550279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:125824305..125837957hg38UCSC Ensembl
Outerchr6:126145451..126159103hg19UCSC Ensembl
Outerchr6:126187144..126200796hg18UCSC Ensembl
Outerchr6:126187144..126200796hg17UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3813653
hg1913653
hg1813653
hg1713653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2613
SamplesNA18555
Known GenesNCOA7
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)nsv5467
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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