A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533728



Internal ID15156814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92685875..92724438hg38UCSC Ensembl
Innerchr14:93152220..93190783hg19UCSC Ensembl
Innerchr14:92221973..92260536hg18UCSC Ensembl
Innerchr14:92221973..92260536hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3838564
hg1938564
hg1838564
hg1738564
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456399
Supporting Variants
Samples1780862306_A
Known GenesLGMN, RIN3
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)nssv533728
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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