A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460787



Internal ID15174166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100631901..100748174hg38UCSC Ensembl
Innerchr3:100350745..100467018hg19UCSC Ensembl
Innerchr3:101833435..101949708hg18UCSC Ensembl
Innerchr3:101833435..101949708hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38116274
hg19116274
hg18116274
hg17116274
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537297
Samples1780854568_A
Known GenesGPR128, TFG
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)nsv460787
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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