A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047182



Internal ID19136401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18605720..19265122hg38UCSC Ensembl
Innerchr14:19382197..19852821hg19UCSC Ensembl
Innerchr14:18452197..18922821hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38659403
hg19470625
hg18470625
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1754n100
Supporting Variantsnssv3526973, nssv3713391, nssv3713390, nssv3713392, nssv3526974, nssv3526971, nssv3526972
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)nsv1047182
Frequency
Sample Size11257
Observed Gain1
Observed Loss6
Observed Complex0
Frequencyn/a


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