A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437853



Internal ID5952191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128430941..128434420hg19UCSC Ensembl
Outerchr3:128427739..128457060hg19UCSC Ensembl
Innerchr3:129913631..129917110hg18UCSC Ensembl
Outerchr3:129910429..129939750hg18UCSC Ensembl
Innerchr3:129913639..129917118hg17UCSC Ensembl
Outerchr3:129910437..129939758hg17UCSC Ensembl
Innerchr3:129751850..129755329hg16UCSC Ensembl
Outerchr3:129748648..129777969hg16UCSC Ensembl
Cytoband3q21.3
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 Variantsnssv467734
SamplesNA10859
Known GenesRAB7A
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)nsv437853
Frequency
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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