A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1035708



Internal ID18778239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:49632775..49749281hg38UCSC Ensembl
Innerchr14:50099493..50215999hg19UCSC Ensembl
Innerchr14:49169243..49285749hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38116507
hg19116507
hg18116507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531014
Samples
Known GenesDNAAF2, KLHDC1, POLE2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1035708
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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