A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv29n17



Internal ID20131595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:96187285..96197568hg38UCSC Ensembl
chr10:97947041..97957324hg19UCSC Ensembl
chr10:97937031..97947314hg18UCSC Ensembl
chr10:97611628..97621911hg16UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg3810284
hg1910284
hg1810284
hg1610284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv437128, nsv437129
SamplesNA10846, NA10831
Known GenesBLNK
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)dgv29n17
Frequency
Sample Size60
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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