A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060654



Internal ID18803185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42723973..42947656hg38UCSC Ensembl
Innerchr19:43228125..43451808hg19UCSC Ensembl
Innerchr19:47919965..48143648hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38223684
hg19223684
hg18223684
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3568660
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG3, PSG6, PSG7, PSG8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060654
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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