A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468975



Internal ID15529040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3016874..3041008hg38UCSC Ensembl
Innerchr12:3126040..3150174hg19UCSC Ensembl
Innerchr12:2996301..3020435hg18UCSC Ensembl
Innerchr12:2996301..3020435hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3824135
hg1924135
hg1824135
hg1724135
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544000
SamplesNINDS_69
Known GenesTEAD4
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)nsv468975
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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