A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437852



Internal ID15036584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:33214257..33224579hg38UCSC Ensembl
OuterchrX:33213564..33224579hg38UCSC Ensembl
InnerchrX:33232374..33242696hg19UCSC Ensembl
OuterchrX:33231681..33242696hg19UCSC Ensembl
InnerchrX:33142295..33152617hg18UCSC Ensembl
OuterchrX:33141602..33152617hg18UCSC Ensembl
InnerchrX:32593800..32604122hg16UCSC Ensembl
OuterchrX:32593107..32604122hg16UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3811016
hg1911016
hg1811016
hg1611016
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467733
SamplesNA18500
Known GenesDMD
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)nsv437852
Frequency
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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