A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049512



Internal ID19138731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18676837..19289336hg38UCSC Ensembl
Innerchr14:19453314..19877060hg19UCSC Ensembl
Innerchr14:18523314..18947060hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38612500
hg19423747
hg18423747
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1758n100
Supporting Variantsnssv3714219, nssv3528082, nssv3528083
Samples
Known GenesBMS1P17, BMS1P18, POTEG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049512
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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