A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008798



Internal ID19098016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130070370..130133008hg38UCSC Ensembl
Innerchr3:129789213..129851851hg19UCSC Ensembl
Innerchr3:131271903..131334541hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3862639
hg1962639
hg1862639
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4894n100
Supporting Variantsnssv3607028
Samples
Known GenesALG1L2, FAM86HP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008798
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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