A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000179



Internal ID19089396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:108833482..108908487hg38UCSC Ensembl
Innerchr3:108552329..108627334hg19UCSC Ensembl
Innerchr3:110035019..110110024hg18UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg3875006
hg1975006
hg1875006
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4835n100
Supporting Variantsnssv3735247, nssv3604401
Samples
Known GenesGUCA1C, TRAT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000179
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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