A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437672



Internal ID15036404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:48036127..48054367hg38UCSC Ensembl
Outerchr10:48003252..48068305hg38UCSC Ensembl
Innerchr10:49244142..49262393hg19UCSC Ensembl
Outerchr10:49211286..49276342hg19UCSC Ensembl
Innerchr10:48914148..48932399hg18UCSC Ensembl
Outerchr10:48881292..48946348hg18UCSC Ensembl
Innerchr10:48588745..48606996hg16UCSC Ensembl
Outerchr10:48555889..48620945hg16UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3865054
hg1965057
hg1865057
hg1665057
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467553
SamplesNA19240
Known GenesCTGLF12P
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)nsv437672
Frequency
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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