A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437503



Internal ID8349903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:33447530..33448334hg38UCSC Ensembl
Outerchr6:33440765..33453800hg38UCSC Ensembl
Innerchr6:33415307..33416111hg19UCSC Ensembl
Outerchr6:33408542..33421577hg19UCSC Ensembl
Innerchr6:33523285..33524089hg18UCSC Ensembl
Outerchr6:33516520..33529555hg18UCSC Ensembl
Innerchr6:33462201..33463005hg16UCSC Ensembl
Outerchr6:33455435..33468471hg16UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3813036
hg1913036
hg1813036
hg1613037
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467384
SamplesNA19208
Known GenesSYNGAP1
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)nsv437503
Frequency
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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