A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533229



Internal ID15164396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124348839..124388041hg38UCSC Ensembl
Innerchr12:124833385..124872587hg19UCSC Ensembl
Innerchr12:123399338..123438540hg18UCSC Ensembl
Innerchr12:123358265..123397467hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3839203
hg1939203
hg1839203
hg1739203
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455737
Supporting Variants
SamplesHGDP01351
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)nssv533229
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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