A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533200



Internal ID15162493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95627257..95680547hg38UCSC Ensembl
Innerchr12:96021033..96074323hg19UCSC Ensembl
Innerchr12:94545164..94598454hg18UCSC Ensembl
Innerchr12:94523501..94576791hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3853291
hg1953291
hg1853291
hg1753291
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455692
Supporting Variants
SamplesHGDP00952
Known GenesNTN4, PGAM1P5
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)nssv533200
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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