A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013342



Internal ID19102560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130073778..130137891hg38UCSC Ensembl
Innerchr3:129792621..129856734hg19UCSC Ensembl
Innerchr3:131275311..131339424hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3864114
hg1964114
hg1864114
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4898n100
Supporting Variantsnssv3607098
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)nsv1013342
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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