A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533731



Internal ID15512877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92950591..92993514hg38UCSC Ensembl
Innerchr14:93416936..93459859hg19UCSC Ensembl
Innerchr14:92486689..92529612hg18UCSC Ensembl
Innerchr14:92486689..92529612hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3842924
hg1942924
hg1842924
hg1742924
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456402
Supporting Variants
SamplesNINDS_71
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)nssv533731
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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