A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056128



Internal ID19145347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43001832..43249346hg38UCSC Ensembl
Innerchr19:43505984..43753498hg19UCSC Ensembl
Innerchr19:48197824..48445338hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38247515
hg19247515
hg18247515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3583n100
Supporting Variantsnssv3571681, nssv3571671, nssv3571683, nssv3571679, nssv3571675, nssv3571682, nssv3571674, nssv3571680, nssv3571672, nssv3571673, nssv3571684, nssv3571678, nssv3571676, nssv3571677
Samples
Known GenesLOC284344, PSG11, PSG2, PSG4, PSG5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056128
Frequency
Sample Size11257
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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