A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533568



Internal ID15504229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31714643..31772667hg38UCSC Ensembl
Innerchr14:32183849..32241873hg19UCSC Ensembl
Innerchr14:31253600..31311624hg18UCSC Ensembl
Innerchr14:31253600..31311624hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3858025
hg1958025
hg1858025
hg1758025
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456199
Supporting Variants
Samples1780862598_A
Known GenesNUBPL
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)nssv533568
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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