A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468947



Internal ID15182326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:170292..268738hg38UCSC Ensembl
Innerchr12:279458..377904hg19UCSC Ensembl
Innerchr12:149719..248165hg18UCSC Ensembl
Innerchr12:149719..248165hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3898447
hg1998447
hg1898447
hg1798447
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543979
SamplesHGDP00937
Known GenesIQSEC3, SLC6A12, SLC6A13
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)nsv468947
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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