A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057347



Internal ID18799878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42758818..42850288hg38UCSC Ensembl
Innerchr19:43262970..43354440hg19UCSC Ensembl
Innerchr19:47954810..48046280hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3891471
hg1991471
hg1891471
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3554n100
Supporting Variantsnssv3568818, nssv3568823, nssv3568819, nssv3568820, nssv3568821, nssv3568822, nssv3568815, nssv3722861, nssv3722863, nssv3568816, nssv3722862, nssv3568824, nssv3722864, nssv3568817, nssv3568825
Samples
Known GenesLOC100289650, PSG10P, PSG8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057347
Frequency
Sample Size29084
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer