A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059388



Internal ID19148607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42758818..42866492hg38UCSC Ensembl
Innerchr19:43262970..43370644hg19UCSC Ensembl
Innerchr19:47954810..48062484hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38107675
hg19107675
hg18107675
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3555n100
Supporting Variantsnssv3568850, nssv3722872
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059388
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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