A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998714



Internal ID19158250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130067085..130152680hg38UCSC Ensembl
Innerchr3:129785928..129871523hg19UCSC Ensembl
Innerchr3:131268618..131354213hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3885596
hg1985596
hg1885596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4885n100
Supporting Variantsnssv3606850
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)nsv998714
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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