A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543986



Internal ID15505731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:741447..813242hg38UCSC Ensembl
Innerchr12:850613..922408hg19UCSC Ensembl
Innerchr12:720874..792669hg18UCSC Ensembl
Innerchr12:720874..792669hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3871796
hg1971796
hg1871796
hg1771796
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468959
Supporting Variants
SamplesHGDP00206
Known GenesWNK1
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)nssv543986
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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