A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466673



Internal ID15526738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:136508507..136563054hg38UCSC Ensembl
Innerchr9:139402959..139457506hg19UCSC Ensembl
Innerchr9:138522780..138577327hg18UCSC Ensembl
Innerchr9:136678796..136733343hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3854548
hg1954548
hg1854548
hg1754548
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542155
SamplesHGDP00473
Known GenesMIR4673, MIR4674, NOTCH1
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)nsv466673
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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