A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437158



Internal ID8349558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:150706434..150708512hg38UCSC Ensembl
Outerchr1:150679726..150711036hg38UCSC Ensembl
Innerchr1:150678910..150680988hg19UCSC Ensembl
Outerchr1:150652202..150683512hg19UCSC Ensembl
Innerchr1:148945534..148947612hg18UCSC Ensembl
Outerchr1:148918826..148950136hg18UCSC Ensembl
Innerchr1:147895492..147897570hg16UCSC Ensembl
Outerchr1:147868784..147900094hg16UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3831311
hg1931311
hg1831311
hg1631311
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467039
SamplesNA12753
Known GenesGOLPH3L, HORMAD1
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)nsv437158
Frequency
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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