A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544233



Internal ID15504671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31851236..31910068hg38UCSC Ensembl
Innerchr12:32004170..32063002hg19UCSC Ensembl
Innerchr12:31895437..31954269hg18UCSC Ensembl
Innerchr12:31895437..31954269hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3858833
hg1958833
hg1858833
hg1758833
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469330
Supporting Variants
Samples1788485590_A
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)nssv544233
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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