A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459458



Internal ID15172837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22326954..22834810hg38UCSC Ensembl
Innerchr22:22681312..23176986hg19UCSC Ensembl
Innerchr22:21011312..21506986hg18UCSC Ensembl
Innerchr22:21005866..21501540hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38507857
hg19495675
hg18495675
hg17495675
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv551n27
Supporting Variantsnssv536195
SamplesNINDS_90
Known GenesGGTLC2, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
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)nsv459458
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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