A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544235



Internal ID15503289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31851236..31941167hg38UCSC Ensembl
Innerchr12:32004170..32094101hg19UCSC Ensembl
Innerchr12:31895437..31985368hg18UCSC Ensembl
Innerchr12:31895437..31985368hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3889932
hg1989932
hg1889932
hg1789932
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469332
Supporting Variants
Samples1780862176_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)nssv544235
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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