A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066512



Internal ID19155731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42790226..43285762hg38UCSC Ensembl
Innerchr19:43294378..43789914hg19UCSC Ensembl
Innerchr19:47986218..48481754hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38495537
hg19495537
hg18495537
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3572n100
Supporting Variantsnssv3569519, nssv3722971, nssv3722970, nssv3569520
Samples
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7, PSG9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066512
Frequency
Sample Size11257
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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