A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469491



Internal ID15529556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:82714616..82809963hg38UCSC Ensembl
Innerchr12:83108395..83203742hg19UCSC Ensembl
Innerchr12:81632526..81727873hg18UCSC Ensembl
Innerchr12:81610863..81706210hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3895348
hg1995348
hg1895348
hg1795348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544349
Samples1798860071_A
Known GenesTMTC2
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)nsv469491
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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