A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051752



Internal ID19140971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18976182..19954095hg38UCSC Ensembl
Innerchr14:19562127..20422254hg19UCSC Ensembl
Innerchr14:18632127..19492094hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38977914
hg19860128
hg18859968
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1766n100
Supporting Variantsnssv3528235, nssv3528236, nssv3528234, nssv3528233, nssv3528237
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K2, OR4K5, 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)nsv1051752
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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