A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544234



Internal ID15511784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31851236..31915943hg38UCSC Ensembl
Innerchr12:32004170..32068877hg19UCSC Ensembl
Innerchr12:31895437..31960144hg18UCSC Ensembl
Innerchr12:31895437..31960144hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3864708
hg1964708
hg1864708
hg1764708
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469331
Supporting Variants
SamplesNINDS_146
Known Genes
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)nssv544234
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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