A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv114n17



Internal ID20131680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29888169..29895206hg38UCSC Ensembl
chr6_cox_hap1:1306188..1313208hg18UCSC Ensembl
chr6:29961770..29968790hg16UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg387038
hg187021
hg167021
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv437486, nsv437485, nsv437483, nsv437487
SamplesNA18506, NA19129, NA19139, NA19202
Known Genes
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)dgv114n17
Frequency
Sample Size60
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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