A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3713508



Internal ID18665103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63642723..64025002hg38UCSC Ensembl
Innerchr14:64109441..64491720hg19UCSC Ensembl
Innerchr14:63179194..63561473hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38382280
hg19382280
hg18382280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1038825
Supporting Variants
Samples
Known GenesMIR548AZ, SGPP1, SYNE2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3713508
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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