A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438353



Internal ID15388163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71105173..71115461hg38UCSC Ensembl
Innerchr2:71332303..71342591hg19UCSC Ensembl
Innerchr2:71185811..71196099hg18UCSC Ensembl
Innerchr2:71306841..71317129hg16UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3810289
hg1910289
hg1810289
hg1610289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv471012, nssv471014, nssv471011, nssv471009, nssv471015, nssv471010
SamplesNA18855, NA19138, NA18857, NA18913, NA18505, NA19139
Known GenesMCEE
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)nsv438353
Frequency
Sample Size269
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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