A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064731



Internal ID18807262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42743361..42850288hg38UCSC Ensembl
Innerchr19:43247513..43354440hg19UCSC Ensembl
Innerchr19:47939353..48046280hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38106928
hg19106928
hg18106928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3551n100
Supporting Variantsnssv3568684, nssv3568683, nssv3722791, nssv3722793, nssv3722792
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)nsv1064731
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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