A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002990



Internal ID19092207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130088069..130170931hg38UCSC Ensembl
Innerchr3:129806912..129889774hg19UCSC Ensembl
Innerchr3:131289602..131372464hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3882863
hg1982863
hg1882863
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4900n100
Supporting Variantsnssv3607128
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)nsv1002990
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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