A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064000



Internal ID19153219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42790226..43033226hg38UCSC Ensembl
Innerchr19:43294378..43537378hg19UCSC Ensembl
Innerchr19:47986218..48229218hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38243001
hg19243001
hg18243001
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3565n100
Supporting Variantsnssv3722918, nssv3572365, nssv3572368, nssv3722917, nssv3572367, nssv3572369, nssv3572364, nssv3572372, nssv3572374, nssv3572370, nssv3722919, nssv3572366, nssv3572373, nssv3572371, nssv3722916
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)nsv1064000
Frequency
Sample Size11257
Observed Gain1
Observed Loss14
Observed Complex0
Frequencyn/a


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