A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056509



Internal ID19145728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42790226..43029369hg38UCSC Ensembl
Innerchr19:43294378..43533521hg19UCSC Ensembl
Innerchr19:47986218..48225361hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38239144
hg19239144
hg18239144
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3558n100
Supporting Variantsnssv3571652, nssv3571648, nssv3571639, nssv3571643, nssv3571653, nssv3571644, nssv3571657, nssv3571640, nssv3571651, nssv3571649, nssv3571655, nssv3571646, nssv3571660, nssv3571650, nssv3571658, nssv3571654, nssv3571641, nssv3571661, nssv3571638, nssv3571642, nssv3571656, nssv3571645, nssv3571659, nssv3571647
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)nsv1056509
Frequency
Sample Size11257
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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