A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040845



Internal ID19130064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18605720..19289336hg38UCSC Ensembl
Innerchr14:19382197..19877060hg19UCSC Ensembl
Innerchr14:18452197..18947060hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38683617
hg19494864
hg18494864
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1754n100
Supporting Variantsnssv3526976, nssv3526975, nssv3526978, nssv3526977, nssv3713393
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, POTEG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040845
Frequency
Sample Size11257
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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