A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059304



Internal ID18801835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:11152817..11229381hg38UCSC Ensembl
Innerchr19:11263493..11340057hg19UCSC Ensembl
Innerchr19:11124493..11201057hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3876565
hg1976565
hg1876565
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3427n100
Supporting Variantsnssv3564694
Samples
Known GenesDOCK6, KANK2, SPC24
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059304
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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