A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048404



Internal ID19137623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19101627..19873135hg38UCSC Ensembl
Innerchr14:19689305..20341294hg19UCSC Ensembl
Innerchr14:18759305..19411134hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38771509
hg19651990
hg18651830
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1766n100
Supporting Variantsnssv3529694
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4M1, OR4N2, OR4Q3, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048404
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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