A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058047



Internal ID19147266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42790226..43030742hg38UCSC Ensembl
Innerchr19:43294378..43534894hg19UCSC Ensembl
Innerchr19:47986218..48226734hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38240517
hg19240517
hg18240517
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3565n100
Supporting Variantsnssv3572345, nssv3572348, nssv3572361, nssv3572363, nssv3572354, nssv3572351, nssv3722915, nssv3572352, nssv3572355, nssv3572343, nssv3572362, nssv3572353, nssv3572349, nssv3572346, nssv3572350, nssv3572347, nssv3572360, nssv3572344, nssv3571232, nssv3572340, nssv3571231, nssv3572342, nssv3572356, nssv3571230, nssv3722914, nssv3572341, nssv3571229, nssv3572358, nssv3572359, nssv3572357
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)nsv1058047
Frequency
Sample Size11257
Observed Gain3
Observed Loss27
Observed Complex0
Frequencyn/a


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