A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066912



Internal ID19156131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42786621..43273123hg38UCSC Ensembl
Innerchr19:43290773..43777275hg19UCSC Ensembl
Innerchr19:47982613..48469115hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38486503
hg19486503
hg18486503
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3566n100
Supporting Variantsnssv3722906
Samples
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7, PSG9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066912
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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