A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541747



Internal ID15155306
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466116
Supporting Variants
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)nssv541747
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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