A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063294



Internal ID19152513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42816973..43230246hg38UCSC Ensembl
Innerchr19:43321125..43734398hg19UCSC Ensembl
Innerchr19:48012965..48426238hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38413274
hg19413274
hg18413274
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3572n100
Supporting Variantsnssv3569678, nssv3722997, nssv3569681, nssv3569683, nssv3569682, nssv3569679, nssv3569685, nssv3569684, nssv3569680
Samples
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, 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)nsv1063294
Frequency
Sample Size11257
Observed Gain2
Observed Loss7
Observed Complex0
Frequencyn/a


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