A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060172



Internal ID18802703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:11149372..11215861hg38UCSC Ensembl
Innerchr19:11260048..11326537hg19UCSC Ensembl
Innerchr19:11121048..11187537hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3866490
hg1966490
hg1866490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3427n100
Supporting Variantsnssv3564690
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)nsv1060172
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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