A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5000



Internal ID15544021
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 Flag1
Merged StatusS
Merged Variantsnsv5806
Supporting Variants
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)nssv5000
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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