A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470921



Internal ID15387521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22741784..22744513hg38UCSC Ensembl
Innerchr22:23084271..23087000hg19UCSC Ensembl
Innerchr22:21414271..21417000hg18UCSC Ensembl
Innerchr22:21408825..21411554hg16UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg382730
hg192730
hg182730
hg162730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438338
Supporting Variants
SamplesNA19203
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)nssv470921
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