A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066236



Internal ID18808767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42751053..42845685hg38UCSC Ensembl
Innerchr19:43255205..43349837hg19UCSC Ensembl
Innerchr19:47947045..48041677hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3894633
hg1994633
hg1894633
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3554n100
Supporting Variantsnssv3568690, nssv3568693, nssv3568691, nssv3722800, nssv3568689, nssv3568692
Samples
Known GenesLOC100289650, PSG10P, PSG8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066236
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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