A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437727



Internal ID15036459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18412129..18414084hg38UCSC Ensembl
Outerchr12:18405242..18422870hg38UCSC Ensembl
Innerchr12:18565063..18567018hg19UCSC Ensembl
Outerchr12:18558176..18575804hg19UCSC Ensembl
Innerchr12:18456330..18458285hg18UCSC Ensembl
Outerchr12:18449443..18467071hg18UCSC Ensembl
Innerchr12:18456330..18458285hg16UCSC Ensembl
Outerchr12:18449443..18467071hg16UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3817629
hg1917629
hg1817629
hg1617629
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467608
SamplesNA19139
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)nsv437727
Frequency
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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