A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533729



Internal ID15503470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92704648..92752613hg38UCSC Ensembl
Innerchr14:93170993..93218958hg19UCSC Ensembl
Innerchr14:92240746..92288711hg18UCSC Ensembl
Innerchr14:92240746..92288711hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3847966
hg1947966
hg1847966
hg1747966
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456400
Supporting Variants
Samples1780862300_A
Known GenesLGMN
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)nssv533729
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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