A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048193



Internal ID19137412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18497136..19861606hg38UCSC Ensembl
Innerchr14:19273613..20329765hg19UCSC Ensembl
Innerchr14:18343613..19399605hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381364471
hg191056153
hg181055993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1757n100
Supporting Variantsnssv3526915
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4M1, OR4N2, OR4Q3, 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)nsv1048193
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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