A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466116



Internal ID15179495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178668780..178688481hg38UCSC Ensembl
Innerchr1:178637915..178657616hg19UCSC Ensembl
Innerchr1:176904538..176924239hg18UCSC Ensembl
Innerchr1:175369572..175389273hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3819702
hg1919702
hg1819702
hg1719702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541747
Samples1780854065_A
Known GenesMIR4424
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)nsv466116
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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