A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039323



Internal ID19128542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18661498..19265122hg38UCSC Ensembl
Innerchr14:19437975..19852821hg19UCSC Ensembl
Innerchr14:18507975..18922821hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38603625
hg19414847
hg18414847
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1754n100
Supporting Variantsnssv3528321, nssv3528319, nssv3528314, nssv3528315, nssv3528316, nssv3528312, nssv3528318, nssv3528320, nssv3528313, nssv3528317
Samples
Known GenesBMS1P17, BMS1P18, POTEG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039323
Frequency
Sample Size11257
Observed Gain1
Observed Loss9
Observed Complex0
Frequencyn/a


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