A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437693



Internal ID5952880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:114914712..114938717hg19UCSC Ensembl
Outerchr10:114911079..115000014hg19UCSC Ensembl
Innerchr10:114904702..114928707hg18UCSC Ensembl
Outerchr10:114901069..114990004hg18UCSC Ensembl
Innerchr10:114904702..114928707hg17UCSC Ensembl
Outerchr10:114901069..114990004hg17UCSC Ensembl
Innerchr10:114579299..114603304hg16UCSC Ensembl
Outerchr10:114575666..114664601hg16UCSC Ensembl
Cytoband10q25.3
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 Variantsnssv467574
SamplesNA18872
Known GenesTCF7L2
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)nsv437693
Frequency
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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