A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5802



Internal ID15550648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:78190982..78224788hg38UCSC Ensembl
Outerchr7:77820299..77854105hg19UCSC Ensembl
Outerchr7:77658235..77692041hg18UCSC Ensembl
Outerchr7:77464950..77498756hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg386216
hg196216
hg186216
hg176216
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2765
SamplesNA18555
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)nsv5802
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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