A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459451



Internal ID15172830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22219245..22246500hg38UCSC Ensembl
Innerchr22:22573637..22600912hg19UCSC Ensembl
Innerchr22:20903637..20930912hg18UCSC Ensembl
Innerchr22:20898191..20925466hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg3827256
hg1927276
hg1827276
hg1727276
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536188
SamplesNINDS_51
Known GenesVPREB1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv459451
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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