A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438210



Internal ID15388021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52111175..52139034hg38UCSC Ensembl
Innerchr12:52504959..52532818hg19UCSC Ensembl
Innerchr12:50791226..50819085hg18UCSC Ensembl
Innerchr12:50791226..50819085hg16UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3827860
hg1927860
hg1827860
hg1627860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470446, nssv470445
SamplesNA18503, NA18505
Known Genes
MethodSNP array
AnalysisMendelian inconsistencies - for each genotype assay and population sample we defined the Mendel failure pattern of that assay as the binary vector (length 60) of Mendel consistency status across the 60 parent-offspring pair.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nsv438210
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer