A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4044



Internal ID15548714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:144880383..144896615hg38UCSC Ensembl
Outerchr3:144599225..144615457hg19UCSC Ensembl
Outerchr3:146081915..146098147hg18UCSC Ensembl
Outerchr3:146081923..146098155hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg386333
hg196333
hg186333
hg176333
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv336, nssv4686
SamplesNA19240, NA19129
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)nsv4044
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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