A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543989



Internal ID15165736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:938365..1010792hg38UCSC Ensembl
Innerchr12:1047531..1119958hg19UCSC Ensembl
Innerchr12:917792..990219hg18UCSC Ensembl
Innerchr12:917792..990219hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3872428
hg1972428
hg1872428
hg1772428
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468962
Supporting Variants
SamplesNINDS_247
Known GenesERC1, RAD52
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)nssv543989
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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