A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819205



Internal ID15583906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:22163601..23016898hg38UCSC Ensembl
Innerchr19:22346403..23199700hg19UCSC Ensembl
Innerchr19:22138243..22991540hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38853298
hg19853298
hg18853298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3n43
Supporting Variantsnssv1418832, nssv1418884, nssv1418854
SamplesAK1
Known GenesLOC100996349, LOC440518, ZNF492, ZNF676, ZNF728, ZNF729, ZNF98, ZNF99
MethodSNP array
AnalysisNormalized bead intensity data and genotype calls were obtained with Illumina BeadStudio 3.1 software. Copy number variants (CNVs) were detected on the basis of deflected log R ratios.
PlatformGPL6985
GPL8887
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)nsv819205
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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