A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5806



Internal ID15550652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:79150840..79226400hg38UCSC Ensembl
Outerchr7:78780156..78855716hg19UCSC Ensembl
Outerchr7:78618092..78693652hg18UCSC Ensembl
Outerchr7:78424807..78500367hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3875561
hg1975561
hg1875561
hg1775561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5000
SamplesNA19129
Known GenesMAGI2
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)nsv5806
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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