A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012019



Internal ID19101237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130018540..130080812hg38UCSC Ensembl
Innerchr3:129737383..129799655hg19UCSC Ensembl
Innerchr3:131220073..131282345hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3862273
hg1962273
hg1862273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4862n100
Supporting Variantsnssv3603560, nssv3603561
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012019
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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