A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059888



Internal ID19149107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42816973..43226065hg38UCSC Ensembl
Innerchr19:43321125..43730217hg19UCSC Ensembl
Innerchr19:48012965..48422057hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38409093
hg19409093
hg18409093
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3572n100
Supporting Variantsnssv3569675, nssv3569676, nssv3722996, nssv3569677
Samples
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, 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)nsv1059888
Frequency
Sample Size11257
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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