A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536508



Internal ID15503995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25532653hg38UCSC Ensembl
Innerchr22:25664408..25928620hg19UCSC Ensembl
Innerchr22:23994408..24258620hg18UCSC Ensembl
Innerchr22:23988962..24253174hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38264213
hg19264213
hg18264213
hg17264213
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459791
Supporting Variants
Samples1780862505_A
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)nssv536508
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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