A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv436983



Internal ID5952074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:96111726..96112005hg19UCSC Ensembl
Outerchr5:96110211..96112083hg19UCSC Ensembl
Innerchr5:96137482..96137761hg18UCSC Ensembl
Outerchr5:96135967..96137839hg18UCSC Ensembl
Innerchr5:96137482..96137761hg17UCSC Ensembl
Outerchr5:96135967..96137839hg17UCSC Ensembl
Innerchr5:96185799..96186078hg16UCSC Ensembl
Outerchr5:96184284..96186156hg16UCSC Ensembl
Cytoband5q15
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 Variantsnssv466864
SamplesNA10847
Known GenesCAST, ERAP1
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)nsv436983
Frequency
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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