A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455838



Internal ID8482885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22954546..23290518hg38UCSC Ensembl
Innerchr13:23528685..23864657hg19UCSC Ensembl
Innerchr13:22426685..22762657hg18UCSC Ensembl
Innerchr13:22426685..22762657hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38335973
hg19335973
hg18335973
hg17335973
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533308
SamplesNINDS_163
Known GenesSGCG
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)nsv455838
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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