A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533730



Internal ID15156430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92940717..92960275hg38UCSC Ensembl
Innerchr14:93407062..93426620hg19UCSC Ensembl
Innerchr14:92476815..92496373hg18UCSC Ensembl
Innerchr14:92476815..92496373hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3819559
hg1919559
hg1819559
hg1719559
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456401
Supporting Variants
Samples1780862084_A
Known GenesITPK1
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)nssv533730
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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