A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533770



Internal ID15157180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104969312..105223755hg38UCSC Ensembl
Innerchr14:105435649..105690092hg19UCSC Ensembl
Innerchr14:104506694..104761137hg18UCSC Ensembl
Innerchr14:104506694..104761137hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38254444
hg19254444
hg18254444
hg17254444
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456458
Supporting Variants
Samples1780862444_A
Known GenesAHNAK2, BRF1, C14orf79, CDCA4, GPR132, JAG2, MIR6765, NUDT14
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)nssv533770
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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