A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437673



Internal ID8350073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52768506..52768538hg38UCSC Ensembl
Outerchr10:52765749..52776791hg38UCSC Ensembl
Innerchr10:54528266..54528298hg19UCSC Ensembl
Outerchr10:54525509..54536551hg19UCSC Ensembl
Innerchr10:54198272..54198304hg18UCSC Ensembl
Outerchr10:54195515..54206557hg18UCSC Ensembl
Innerchr10:53872869..53872901hg16UCSC Ensembl
Outerchr10:53870112..53881154hg16UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3811043
hg1911043
hg1811043
hg1611043
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467554
SamplesNA18506
Known GenesMBL2
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)nsv437673
Frequency
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer