A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050073



Internal ID18792604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105612353..106043007hg38UCSC Ensembl
Innerchr14:106078690..106499238hg19UCSC Ensembl
Innerchr14:105149735..105570283hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38430655
hg19420549
hg18420549
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1982n100
Supporting Variantsnssv3529839
Samples
Known GenesADAM6, ELK2AP, KIAA0125, MIR8071-1, MIR8071-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050073
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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