A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437158



Internal ID5952365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:150678910..150680988hg19UCSC Ensembl
Outerchr1:150652202..150683512hg19UCSC Ensembl
Innerchr1:148945534..148947612hg18UCSC Ensembl
Outerchr1:148918826..148950136hg18UCSC Ensembl
Innerchr1:147491983..147494061hg17UCSC Ensembl
Outerchr1:147465275..147496585hg17UCSC Ensembl
Innerchr1:147895492..147897570hg16UCSC Ensembl
Outerchr1:147868784..147900094hg16UCSC Ensembl
Cytoband1q21.2
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 Variantsnssv467039
SamplesNA12753
Known GenesGOLPH3L, HORMAD1
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)nsv437158
Frequency
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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