A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010302



Internal ID18752833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128654817..128695306hg38UCSC Ensembl
Innerchr3:128373660..128414149hg19UCSC Ensembl
Innerchr3:129856350..129896839hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3840490
hg1940490
hg1840490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4856n100
Supporting Variantsnssv3736414, nssv3736415
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)nsv1010302
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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