A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536204



Internal ID15160401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22327407..22881878hg38UCSC Ensembl
Innerchr22:22681765..23224058hg19UCSC Ensembl
Innerchr22:21011765..21554058hg18UCSC Ensembl
Innerchr22:21006319..21548612hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38554472
hg19542294
hg18542294
hg17542294
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459467
Supporting Variants
SamplesHGDP00606
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)nssv536204
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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