A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438381



Internal ID15388191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208370648..208375017hg38UCSC Ensembl
Innerchr2:209235373..209239742hg19UCSC Ensembl
Innerchr2:208943618..208947987hg18UCSC Ensembl
Innerchr2:209437916..209442285hg16UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg384370
hg194370
hg184370
hg164370
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv471215, nssv471214
SamplesNA18502, NA18500
Known GenesPTH2R
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)nsv438381
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