A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv265n27



Internal ID20132523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104660017..104742230hg38UCSC Ensembl
chr14:105126354..105208567hg19UCSC Ensembl
chr14:104197399..104279612hg18UCSC Ensembl
chr14:104197399..104279612hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3882214
hg1982214
hg1882214
hg1782214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv456446, nsv456448
SamplesNINDS_105, 1780862003_A
Known GenesADSSL1, INF2, MIR4710
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)dgv265n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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