A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5143



Internal ID15549923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243983370..243997097hg38UCSC Ensembl
Outerchr1:244146672..244160399hg19UCSC Ensembl
Outerchr1:242213295..242227022hg18UCSC Ensembl
Outerchr1:240472713..240486440hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3813728
hg1913728
hg1813728
hg1713728
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4610
SamplesNA19129
Known GenesLOC339529
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)nsv5143
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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