A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049581



Internal ID19138800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18639702..19265122hg38UCSC Ensembl
Innerchr14:19416179..19852821hg19UCSC Ensembl
Innerchr14:18486179..18922821hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38625421
hg19436643
hg18436643
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1754n100
Supporting Variantsnssv3527034, nssv3527033, nssv3527035, nssv3527032
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)nsv1049581
Frequency
Sample Size11257
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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