A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437094



Internal ID5951943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:6258796..6259657hg19UCSC Ensembl
Outerchr10:6258433..6261704hg19UCSC Ensembl
Innerchr10:6298802..6299663hg18UCSC Ensembl
Outerchr10:6298439..6301710hg18UCSC Ensembl
Innerchr10:6298802..6299663hg17UCSC Ensembl
Outerchr10:6298439..6301710hg17UCSC Ensembl
Innerchr10:6262802..6263663hg16UCSC Ensembl
Outerchr10:6262439..6265710hg16UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
hg16n/a
Variant TypeCNV Loss
Copy Number
Allele StateHeterozygous
Allele OriginInherited
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv466975
SamplesNA10831
Known GenesPFKFB3
MethodSNP_genotyping_analysis
AnalysisOur algorithm aims to detect deletions that are transmitted from a hemizygous parent to a child. For each trio, every SNP was coded into one of seven categories: (A) Type I mendelian incompatibility (that is, consistent with deletion) involving mother
PlatformNot Provided
Comments
ReferenceConrad et al 2006
Pubmed ID16327808
Accession Number(s)nsv437094
Frequency
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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