A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058211



Internal ID19147430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42790226..43015210hg38UCSC Ensembl
Innerchr19:43294378..43519362hg19UCSC Ensembl
Innerchr19:47986218..48211202hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38224985
hg19224985
hg18224985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3558n100
Supporting Variantsnssv3571613, nssv3571616, nssv3571611, nssv3571619, nssv3571612, nssv3571620, nssv3571615, nssv3571617, nssv3571614, nssv3571610, nssv3571618
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)nsv1058211
Frequency
Sample Size11257
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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