A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721



Internal ID15203873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:43710533..43736533hg38UCSC Ensembl
Outerchr7:43750132..43776132hg19UCSC Ensembl
Outerchr7:43716657..43742657hg18UCSC Ensembl
Outerchr7:43523372..43549372hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3814943
hg1914943
hg1814943
hg1714943
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624
SamplesNA19240
Known GenesCOA1
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)nsv5721
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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