A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469465



Internal ID15182844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:72262145..72865334hg38UCSC Ensembl
Innerchr12:72655925..73259114hg19UCSC Ensembl
Innerchr12:70942192..71545381hg18UCSC Ensembl
Innerchr12:70942192..71545381hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38603190
hg19603190
hg18603190
hg17603190
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544326
SamplesNINDS_198
Known GenesTRHDE, TRHDE-AS1
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)nsv469465
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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