A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004498



Internal ID19093716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:119016312..119099194hg38UCSC Ensembl
Innerchr3:118735159..118818041hg19UCSC Ensembl
Innerchr3:120217849..120300731hg18UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg3882883
hg1982883
hg1882883
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4844n100
Supporting Variantsnssv3604505
Samples
Known GenesIGSF11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004498
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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