A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065030



Internal ID18807561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:11149372..11199804hg38UCSC Ensembl
Innerchr19:11260048..11310480hg19UCSC Ensembl
Innerchr19:11121048..11171480hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3850433
hg1950433
hg1850433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564689
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)nsv1065030
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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