A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536462



Internal ID15508329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25510836hg38UCSC Ensembl
Innerchr22:25664408..25906803hg19UCSC Ensembl
Innerchr22:23994408..24236803hg18UCSC Ensembl
Innerchr22:23988962..24231357hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38242396
hg19242396
hg18242396
hg17242396
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459744
Supporting Variants
SamplesHGDP00804
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
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)nssv536462
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