A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536552



Internal ID15508899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43463583..43590261hg38UCSC Ensembl
Innerchr22:43859477..43986141hg19UCSC Ensembl
Innerchr22:42189421..42317474hg18UCSC Ensembl
Innerchr22:42183975..42311042hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38126679
hg19126665
hg18128054
hg17127068
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459892
Supporting Variants
SamplesHGDP00913
Known GenesEFCAB6, EFCAB6-AS1, MPPED1
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)nssv536552
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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