A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437659



Internal ID15036391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:14546602..14550326hg38UCSC Ensembl
Outerchr10:14521098..14560444hg38UCSC Ensembl
Innerchr10:14588601..14592325hg19UCSC Ensembl
Outerchr10:14563097..14602443hg19UCSC Ensembl
Innerchr10:14628607..14632331hg18UCSC Ensembl
Outerchr10:14603103..14642449hg18UCSC Ensembl
Innerchr10:14592607..14596331hg16UCSC Ensembl
Outerchr10:14567103..14606449hg16UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3839347
hg1939347
hg1839347
hg1639347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467540
SamplesNA18863
Known GenesFAM107B
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)nsv437659
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