A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057404



Internal ID19146623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42864771..43026194hg38UCSC Ensembl
Innerchr19:43368923..43530346hg19UCSC Ensembl
Innerchr19:48060763..48222186hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38161424
hg19161424
hg18161424
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3575n100
Supporting Variantsnssv3570133
Samples
Known GenesPSG1, PSG11, PSG6, PSG7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057404
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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