A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533230



Internal ID15162652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124374698..124400703hg38UCSC Ensembl
Innerchr12:124859244..124885249hg19UCSC Ensembl
Innerchr12:123425197..123451202hg18UCSC Ensembl
Innerchr12:123384124..123410129hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3826006
hg1926006
hg1826006
hg1726006
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455738
Supporting Variants
SamplesHGDP00977
Known GenesNCOR2
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)nssv533230
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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