A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437853



Internal ID8350253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128712098..128715577hg38UCSC Ensembl
Outerchr3:128708896..128738217hg38UCSC Ensembl
Innerchr3:128430941..128434420hg19UCSC Ensembl
Outerchr3:128427739..128457060hg19UCSC Ensembl
Innerchr3:129913631..129917110hg18UCSC Ensembl
Outerchr3:129910429..129939750hg18UCSC Ensembl
Innerchr3:129751850..129755329hg16UCSC Ensembl
Outerchr3:129748648..129777969hg16UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3829322
hg1929322
hg1829322
hg1629322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467734
SamplesNA10859
Known GenesRAB7A
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)nsv437853
Frequency
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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