A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437673



Internal ID5952605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:54528266..54528298hg19UCSC Ensembl
Outerchr10:54525509..54536551hg19UCSC Ensembl
Innerchr10:54198272..54198304hg18UCSC Ensembl
Outerchr10:54195515..54206557hg18UCSC Ensembl
Innerchr10:54198272..54198304hg17UCSC Ensembl
Outerchr10:54195515..54206557hg17UCSC Ensembl
Innerchr10:53872869..53872901hg16UCSC Ensembl
Outerchr10:53870112..53881154hg16UCSC Ensembl
Cytoband10q21.1
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 Variantsnssv467554
SamplesNA18506
Known GenesMBL2
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)nsv437673
Frequency
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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