A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv43n17



Internal ID18990361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:18775000..18854044hg38UCSC Ensembl
chr13:19349140..19428184hg19UCSC Ensembl
chr13:18247140..18326184hg18UCSC Ensembl
chr13:17147140..17226184hg16UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg3879045
hg1979045
hg1879045
hg1679045
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv437781, nsv437160
SamplesNA12752, NA19205
Known GenesANKRD20A9P
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)dgv43n17
Frequency
Sample Size60
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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