A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061783



Internal ID19151002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42790226..43044850hg38UCSC Ensembl
Innerchr19:43294378..43549002hg19UCSC Ensembl
Innerchr19:47986218..48240842hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38254625
hg19254625
hg18254625
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3565n100
Supporting Variantsnssv3569494, nssv3569486, nssv3569487, nssv3722968, nssv3569485, nssv3569481, nssv3722967, nssv3569491, nssv3569489, nssv3569483, nssv3569495, nssv3569492, nssv3569484, nssv3569496, nssv3569488, nssv3569482, nssv3569490, nssv3569493
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG11, 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)nsv1061783
Frequency
Sample Size11257
Observed Gain1
Observed Loss17
Observed Complex0
Frequencyn/a


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