A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013049



Internal ID19102267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130044004..130177521hg38UCSC Ensembl
Innerchr3:129762847..129896364hg19UCSC Ensembl
Innerchr3:131245537..131379054hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38133518
hg19133518
hg18133518
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3603891, nssv3734355, nssv3603892
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)nsv1013049
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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