A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438356



Internal ID15041586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75617501..75661034hg38UCSC Ensembl
Innerchr2:75844627..75888160hg19UCSC Ensembl
Innerchr2:75698135..75741668hg18UCSC Ensembl
Innerchr2:75819164..75862697hg16UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3843534
hg1943534
hg1843534
hg1643534
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv471017
SamplesNA18555
Known GenesMRPL19
MethodSNP array
AnalysisNull genotypes - for each genotype assay and population sample we defined the null genotype pattern of that assay as the binary vector (length 90) of null genotype calls across the 90 individuals.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nsv438356
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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