A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437728



Internal ID15036460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18412129..18414084hg38UCSC Ensembl
Outerchr12:18408463..18415794hg38UCSC Ensembl
Innerchr12:18565063..18567018hg19UCSC Ensembl
Outerchr12:18561397..18568728hg19UCSC Ensembl
Innerchr12:18456330..18458285hg18UCSC Ensembl
Outerchr12:18452664..18459995hg18UCSC Ensembl
Innerchr12:18456330..18458285hg16UCSC Ensembl
Outerchr12:18452664..18459995hg16UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg387332
hg197332
hg187332
hg167332
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467609
SamplesNA19161
Known GenesPIK3C2G
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)nsv437728
Frequency
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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