A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057831



Internal ID18800362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:331994..384644hg38UCSC Ensembl
Innerchr19:331994..384644hg19UCSC Ensembl
Innerchr19:282994..335644hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3852651
hg1952651
hg1852651
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3420n100
Supporting Variantsnssv3564597
Samples
Known GenesMIER2, THEG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057831
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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