A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4654



Internal ID15549385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:221009634..221031072hg38UCSC Ensembl
Outerchr1:221182976..221204414hg19UCSC Ensembl
Outerchr1:219249599..219271037hg18UCSC Ensembl
Outerchr1:217571371..217592809hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg386142
hg196142
hg186142
hg176142
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3781
SamplesNA12878
Known Genes
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)nsv4654
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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