A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437800



Internal ID15036532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6731002..6732302hg38UCSC Ensembl
Outerchr16:6720877..6755542hg38UCSC Ensembl
Innerchr16:6781003..6782303hg19UCSC Ensembl
Outerchr16:6770878..6805543hg19UCSC Ensembl
Innerchr16:6721004..6722304hg18UCSC Ensembl
Outerchr16:6710879..6745544hg18UCSC Ensembl
Innerchr16:6781297..6782597hg16UCSC Ensembl
Outerchr16:6771172..6805837hg16UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3834666
hg1934666
hg1834666
hg1634666
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467681
SamplesNA18500
Known GenesRBFOX1
MethodSNP array
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; (B) Type I mendelian incompatibility involving father; (C) Type II mendelian incompatibility (that is, inconsistent with deletion); (D) child homozygous or missing data, both parents homozygous or missing data; (E) child homozygous or missing data, father heterozygous, mother homozygous or missing data; (F) child homozygous or missing data, mother heterozygous, father homozygous or missing data; (G) child heterozygous or both parents heterozygous (see Supplementary Methods for further details). SNPs were assigned to states D-G only if they did not contain mendelian incompatibilities. A run of consecutive SNPs in a particular trio was considered to be consistent with a maternal transmitted deletion if all SNPs were in states A, D or E, or with a paternal deletion if all SNPs were in states B, D or F.
PlatformNot reported
Comments
ReferenceConrad_et_al_2006
Pubmed ID16327808
Accession Number(s)nsv437800
Frequency
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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