A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5803



Internal ID15203963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:79008796..79040923hg38UCSC Ensembl
Outerchr7:78638112..78670239hg19UCSC Ensembl
Outerchr7:78476048..78508175hg18UCSC Ensembl
Outerchr7:78282763..78314890hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg387383
hg197383
hg187383
hg177383
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10561
SamplesNA18956
Known GenesMAGI2, MAGI2-AS2
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)nsv5803
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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