A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040110



Internal ID19129329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18605720..19637241hg38UCSC Ensembl
Innerchr14:19382197..20105479hg19UCSC Ensembl
Innerchr14:18452197..19175240hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381031522
hg19723283
hg18723044
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1761n100
Supporting Variantsnssv3526994, nssv3526993, nssv3526996, nssv3526995, nssv3713396
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, POTEG, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040110
Frequency
Sample Size11257
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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