A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437503



Internal ID5953524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:33415307..33416111hg19UCSC Ensembl
Outerchr6:33408542..33421577hg19UCSC Ensembl
Innerchr6:33523285..33524089hg18UCSC Ensembl
Outerchr6:33516520..33529555hg18UCSC Ensembl
Innerchr6:33523285..33524089hg17UCSC Ensembl
Outerchr6:33516520..33529555hg17UCSC Ensembl
Innerchr6:33462201..33463005hg16UCSC Ensembl
Outerchr6:33455435..33468471hg16UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
hg16n/a
Variant TypeCNV Loss
Copy Number
Allele StateHeterozygous
Allele OriginInherited
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv467384
SamplesNA19208
Known GenesSYNGAP1
MethodSNP_genotyping_analysis
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
PlatformNot Provided
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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