A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005374



Internal ID19094591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130044843..130172898hg38UCSC Ensembl
Innerchr3:129763686..129891741hg19UCSC Ensembl
Innerchr3:131246376..131374431hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38128056
hg19128056
hg18128056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4866n100
Supporting Variantsnssv3602804
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)nsv1005374
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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