A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv467882



Internal ID15385230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:186671770..186672838hg38UCSC Ensembl
Innerchr3:186389559..186390627hg19UCSC Ensembl
Innerchr3:187872253..187873321hg18UCSC Ensembl
Innerchr3:187710472..187711540hg16UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg381069
hg191069
hg181069
hg161069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv437901
Supporting Variants
SamplesNA12813
Known GenesHRG
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)nssv467882
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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