A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002320



Internal ID19091537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130022511..130129574hg38UCSC Ensembl
Innerchr3:129741354..129848417hg19UCSC Ensembl
Innerchr3:131224044..131331107hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38107064
hg19107064
hg18107064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4864n100
Supporting Variantsnssv3603576
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)nsv1002320
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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