A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062248



Internal ID18804779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42751053..42822127hg38UCSC Ensembl
Innerchr19:43255205..43326279hg19UCSC Ensembl
Innerchr19:47947045..48018119hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3871075
hg1971075
hg1871075
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3553n100
Supporting Variantsnssv3722798
Samples
Known GenesLOC100289650, PSG8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062248
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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