A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533667



Internal ID15156025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63953695..64287643hg38UCSC Ensembl
Innerchr14:64420413..64754361hg19UCSC Ensembl
Innerchr14:63490166..63824114hg18UCSC Ensembl
Innerchr14:63490166..63824114hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38333949
hg19333949
hg18333949
hg17333949
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456326
Supporting Variants
Samples1780854492_A
Known GenesESR2, MIR548AZ, SYNE2
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)nssv533667
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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