A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004705



Internal ID19093922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:99205642..99230565hg38UCSC Ensembl
Innerchr3:98924486..98949409hg19UCSC Ensembl
Innerchr3:100407176..100432099hg18UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3824924
hg1924924
hg1824924
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4825n100
Supporting Variantsnssv3603402, nssv3603400, nssv3603401, nssv3603403
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)nsv1004705
Frequency
Sample Size11257
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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