A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4720



Internal ID15202772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:225485516..225530307hg38UCSC Ensembl
Outerchr1:225673218..225718009hg19UCSC Ensembl
Outerchr1:223739841..223784632hg18UCSC Ensembl
Outerchr1:221979953..222024744hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3844792
hg1944792
hg1844792
hg1744792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8149
SamplesNA12156
Known GenesENAH
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)nsv4720
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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